Condition Guides

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The Mighty’s Condition Guides combine the expertise of both the medical and patient community to help you and your loved ones on your health journeys. The guides are living documents and will be updated with new information as it becomes available.

Parkinson's Guide: How to Get Diagnosed With Parkinson's Disease

Other sections of this Condition Guide: Overview    |    Symptoms    |    Treatment    |    Resources What you’ll find in this section: Finding a Doctor   |   What Parkinson’s Diagnosis Criteria Do Doctors Use?   | What to Expect at the Appointment | Conditions That May Be Mistaken for Parkinson’s Disease |   Other Challenges of Diagnosing Parkinson’s Disease This section was medically reviewed by Brent Bluett, M.D. Understanding Parkinson’s Disease: Getting a Parkinson’s Diagnosis Once you start noticing some changes in your body that impact your daily life or are just simply bothersome, you should begin the process of figuring out if you have Parkinson’s disease. It may seem like a daunting undertaking, but don’t let fear stop you. Once you are diagnosed,  you can start treating your symptoms and learning strategies that will help you feel better. Finding a Doctor Your general or family doctor may be familiar with Parkinson’s disease and may be able to put the pieces together when they examine you. The more experience a doctor has in Parkinson’s disease, the better. 10 However, the best type of doctor to get a diagnosis from is a movement disorder specialist — a neurologist trained in conditions that cause movement problems, like Parkinson’s disease, Tourette syndrome and dystonia, which causes muscle contractions. These doctors know the latest research and treatments and they know which symptoms to look for when making a Parkinson’s diagnosis. If you go to your regular doctor and they’re not sure about diagnosing you, you may be referred to a general neurologist or a movement disorder specialist. Or you can find a specialist on your own — you can research to find one in private practice or at a larger university-affiliated medical center. 20 Some tools that can help begin your search include: The Parkinson’s Foundation’s resource map , which allows you to search for PD care and community organizations in your area The Parkinson’s Foundation Helpline: Call 1-800-4PD-INFO (473-4636) or email for a referral The International Parkinson and Movement Disorder Society’s movement disorder specialists directory No matter who you see, don’t be afraid to seek a second opinion with a movement disorder specialist if you feel like your doctor isn’t taking your symptoms seriously or isn’t knowledgeable about Parkinson’s disease. What Parkinson’s Diagnosis Criteria Do Doctors Use? Until the 1980s, there was no formal diagnostic criteria for Parkinson’s disease. Beginning with James Parkinson’s 1817 article, “An Essay on the Shaking Palsy,” and Margaret Hoehn and Melvin Yahr’s description of the five stages of motor progression in 1967, scientists focused on the unique (and visible) ways Parkinson’s disease affects movement. A few scientists also noted non-motor symptoms like issues with automatic body functions, such as heart rate and blood pressure. With the discovery in the 1950s of levodopa, a drug that gets turned into dopamine in your brain and thus replaces some of the dopamine that is lost due to PD, and the discovery of how dramatically levodopa improves motor symptoms, the medical community continued to focus more of their efforts on defining and treating Parkinson’s as a motor condition. 7 The Diagnostic Criteria Used Today In 2015, a Movement Disorder Society task force proposed a set of criteria that became known as the Movement Disorder Society – United Parkinson’s Disease Rating Scale (MDS-UPDRS), which includes non-motor symptoms in its criteria. 9 The new criteria requires you to have slowness of movement, plus either a rest tremor or rigidity. It also requires that you do not meet any criteria in a list called “absolute exclusion criteria.” This list of symptoms indicates you most likely do not have PD or that you may have an “atypical parkinsonism” — disorders that resemble Parkinson’s disease but are ultimately different. If you meet any of those requirements, PD is ruled out. For example, one absolute exclusion criteria is if you are taking a drug that is known to cause Parkinson’s-like side effects. Next, you must meet at least two of the following four criteria: Dramatic improvement of motor symptoms when you take the gold-standard Parkinson’s medication called levodopa The presence of dyskinesia (involuntary movement) as a result of taking levodopa — dyskinesia is a possible side effect of levodopa among people with PD Rest tremor, meaning your tremor occurs when the body part is at rest Loss of smell, or if you have a test called MIBG scintigraphy and it indicates that you have autonomic dysfunction, which is when your autonomic nervous system doesn’t work correctly, leading to issues with things like heart rate and blood pressure. Finally, if you meet criteria in a separate list in the MDS-UPDRS criteria called “red flags,” you must also meet the same number of criteria among the four above. (If you have two red flags, then you must meet two of the criteria above, and so on.) There are 10 red flags in the list and all indicate that you might not have Parkinson’s. For example, if you don’t have any of the common non-motor symptoms despite having PD for five years, then in order for PD to still be considered, you must also have at least one of the four criteria above. If you have five or more red flags, that would point to you likely not having Parkinson’s disease because the signs you don’t have PD outweigh the signs you do. The MDS-UPDRS also recognizes there is a “prodromal” phase of Parkinson’s, early non-motor symptoms and signs of PD that occur before you start noticing motor symptoms. While non-motor symptoms are not necessarily “formally” part of making a PD diagnosis, they can help confirm if your doctor suspects Parkinson’s. 16 In fact, you may not even realize some non-motor symptoms are related to Parkinson’s disease. What to Expect at the Appointment To make a Parkinson’s diagnosis, your doctor will look for the three main motor symptoms: bradykinesia (slowness of movement), tremor and rigidity. Remember, not everyone with Parkinson’s disease has a tremor. They will also ask questions and examine you to see if there are possible other explanations for your symptoms besides Parkinson’s. The doctor will ask you questions and look for Parkinson’s signs like: If you have a resting tremor, meaning your tremor appears when your limb like an arm or leg is still If your tremor and/or other movement issues occur on one side of your body only If your handwriting has become very small If you have issues with balance If the way you walk has changed; for example, you are taking small steps or having trouble turning If you have stiffness, aka rigidity, in your arms or legs; for example, you don’t swing your arm when you walk If you have difficulty with fine motor movements like combing your hair or brushing your teeth If your voice has become softer or more difficult for others to hear To assess your non-motor symptoms, your doctor may ask you questions about: If you’ve lost your sense of smell If you experience constipation If you talk or act out dreams while you sleep After asking you questions about these symptoms and observing your movement, your doctor may be able to diagnose you with Parkinson’s immediately. However, since the diagnosis is clinical, meaning it’s based on signs and symptoms rather than lab tests or imaging, you may exhibit signs that make it more difficult for your physician to make a concrete diagnosis. In this case, there are a few more strategies doctors use to make a Parkinson’s diagnosis. Watching Your Progression After examining you, your doctor might suspect you have Parkinson’s, but ask you to follow up  over the next several years, so they can observe if or how your symptoms have progressed. 8 Since Parkinson’s is a progressive disease, examining you again over time may also give you time to present with hallmark symptoms that weren’t noticeable before. For example, maybe you went to your doctor because you are having sleep issues like acting out dreams, but your motor symptoms are very mild or almost unnoticeable. Your doctor likely won’t want to diagnose you with Parkinson’s based on your sleep issues alone, so they might ask you to come back in six months to see if your other symptoms have developed. If your symptoms don’t get any worse or if they improve on their own, you may have another medical condition. DaTscan There is no singular test to definitively use to determine if you have Parkinson’s disease. However, a test called a DaTscan can help confirm if you have a form of Parkinson’s by showing if you have lost dopamine transporters in your brain, which normally help in the process of how your brain stores and releases dopamine. The European Medicines Agency approved the DaTscan for use in 2000, and the U.S. Food and Drug Administration (FDA) approved it in 2011. In a DaTscan, a radioactive drug called ioflupane I123 is injected into your bloodstream through an IV line. Then, three to six hours later, a technician takes photos of your brain using single-photon emission computed tomography (SPECT) imaging — basically an MRI-like device where you lie down on a table with your head in large imaging equipment. The ioflupane I123 drug lights up the areas in your brain where dopamine transporters collect. A healthy brain image will show a symmetrical, “comma”-type pattern of dopamine transporters, while a brain with Parkinson’s will show a small, abnormally-shaped pattern. 15 Similar to other radioactive medical tests, like X-rays, exposure to radiation is a risk of the procedure. Prior to the scan, you should receive a drug that blocks your thyroid from absorbing the radiation. 3 There are a few limitations to DaTscans. It can only tell you if you have a form of Parkinsonism, which includes PD and atypical parkinsonism (i.e. progressive supranuclear palsy, Lewy body dementia, corticobasal syndrome, and/or multiple system atrophy). Although each of these conditions have unique symptoms that doctors can tell apart, they are all associated with a loss of dopamine. So the test can only reveal if there is a loss of dopamine, and cannot tell you which of those conditions you have. It also can’t tell you how advanced or severe your disease progression is. 18 If your doctor is already fairly certain you have Parkinson’s disease, a DaTscan will simply confirm their suspicion. On the other hand, if your doctor is having trouble determining if you have Parkinson’s disease or a separate condition, like essential tremor, then a DaTscan may be useful. A DaTscan is not required in order to diagnose Parkinson’s disease, so you should discuss whether or not you should get one with your doctor. DaTscans are covered by Medicare and Medicaid, and may be covered by other insurance plans. Without insurance, DaTscans cost about $2,500. 4 Trying Parkinson’s Disease Medications One of the features of PD is that it will significantly and consistently improve when you begin taking medication that targets your dopamine system. 10 Your doctor may ask you to try taking Parkinson’s medication, like carbidopa-levodopa, to help confirm a PD diagnosis. Levodopa is a drug that is converted into dopamine in your brain, replacing some of the dopamine you lose due to the disease. Levodopa is frequently paired with carbidopa, which helps prevent levodopa from breaking down before it reaches your brain. Your doctor will observe if carbidopa-levodopa helps your motor symptoms. Carbidopa-levodopa is typically very effective at treating motor symptoms, so a significant response to the medication used to treat it helps confirm the diagnosis. Parkinson’s medications are generally very safe and the risk of taking them is low, while the benefit is great because it might help if you do have Parkinson’s and improve your mobility. 10 Related: What you can do before you see your doctor next. 10 Things That Can Help You Cope With Your New Diagnosis of Parkinson’s Disease Conditions That May Be Mistaken for Parkinson’s Disease There are a few conditions that may be confused with Parkinson’s disease. These conditions can cause similar symptoms, and because there is no definitive test that proves you have Parkinson’s disease or any of these “similar” conditions. As you might imagine, this can make it challenging at times for doctors to figure out which condition you have. A few of the most common conditions that might look like Parkinson’s are: Essential Tremor Essential tremor is a neurological condition that typically causes a tremor of both hands, and possibly other body parts, when the limb is at rest and also when the body part is held against gravity (for example, holding your arm out). It is believed to be caused by abnormal functioning of the thalamus, a part of the brain that sends signals related to movement. Many cases are caused by a genetic mutation that is passed down among families. This tremor differs from the Parkinson’s tremor in a couple key ways: it worsens when you voluntarily move the affected body part and usually occurs on both sides of your body, though one side may be more affected than the other. Parkinson’s tremors happen at rest (when you’re not trying to move the body part) and usually only affect one side of your body unless the disorder has been untreated for a long time. 16 An often-cited example of essential tremor is the actress Katharine Hepburn, whose essential tremor affected her head, voice, arms and hands. 1 Essential tremor is far more common than Parkinson’s disease, affecting an estimated 7 million Americans. 6 The two conditions can be differentiated based on the type of tremor, presence of other Parkinson’s motor symptoms, whether Parkinson’s or essential tremor medications help, and/or a DaTscan. While essential tremor has historically been believed to cause only tremor and none of the other symptoms that characterize Parkinson’s disease (like slow movements, rigidity, walking changes and balance problems), newer research suggests some people with essential tremor also have motor and non-motor symptoms associated with Parkinson’s. 17 More research is needed to determine if essential tremor can evolve into Parkinson’s over a long period of time and if the two conditions are related in some way. Atypical Parkinsonism This group of “Parkinsonian” syndromes feature symptoms that look like Parkinson’s disease, especially in the earlier stages of the conditions. However, they each ultimately have their own distinguishing features and causes. Your doctor can tell them apart from Parkinson’s disease based on their lack of response to Parkinson’s medications (specifically carbidopa-levodopa), faster progression, using imaging studies like MRI and PET scans, and unique symptoms that appear over time. Multiple System Atrophy Multiple system atrophy (MSA) is a progressive disease that affects the autonomic nervous system — this controls functions like blood pressure, digestion and bladder control — and movement. MSA symptoms include imbalance and falls, tremor, slowness of movement, rigidity, speech issues, trouble with sleep, severe lightheadedness when standing, and bladder control issues. It typically progresses much faster than Parkinson’s disease. MSA often leads to falls and swallowing difficulty. 11 Imaging studies can help diagnose multiple system atrophy, in addition to not experiencing long-lasting improvement from the medication carbidopa-levodopa. Progressive Supranuclear Palsy Progressive supranuclear palsy (PSP) is a degenerative brain disorder that affects balance, walking, coordination, speech and eye movement. Because the symptoms can seem similar to PD, your doctor may think you have PD and instruct you to take PD medications to see if they help. But PSP doesn’t typically respond as well to Parkinson’s medications. PSP can be diagnosed with a neurologic exam and MRI imaging. 12 It typically leads to severe disability, and the average time to death is between eight to 10 years from the time symptoms begin. 12 Lewy Body Dementia Lewy body dementia (LBD) is a form of parkinsonism that affects memory, thinking and movement. LBD typically causes fluctuating levels of alertness and visual hallucinations in addition to motor symptoms seen in PD (slowness, stiffness, and tremor). Parkinson’s medications can help motor symptoms but sometimes can worsen visual hallucinations or mental health problems. 19 Lewy body dementia can look very similar to Parkinson’s disease dementia (PDD). The main way your physician can distinguish the two disorders is using the “one year rule.” In LBD, cognition is typically affected within one year of the onset of motor symptoms, while in PDD cognition usually declines more than one year after the onset of motor symptoms. Corticobasal Degeneration Corticobasal degeneration causes degeneration of tissue in different areas of the brain, typically causing drastic changes to one side of the body. This includes severe rigidity, coordination difficulties, uncontrollable muscle contractions, slow movement, and speech issues. If you have corticobasal degeneration, the symptoms progress more rapidly than PD, with the average time from diagnosis to death of eight to 10 years. Since it might seem like Parkinson’s at first, your doctor may initially prescribe Parkinson’s medication to treat the symptoms; however, Parkinson’s medications do not provide lasting benefits. The diagnosis is clinical, meaning it focuses on signs and symptoms rather than tests, and is best made by an experienced movement disorder specialist. Brain imaging can help improve the accuracy of an early diagnosis. 2 Related: Find out the lesser-known symptom of parkinsonism that Linda Ronstadt copes with. Linda Ronstadt Opens Up About a Lesser-Known Symptom of Parkinson’s Disease Other Challenges of Diagnosing Parkinson’s Disease Parkinson’s disease progresses slowly, often with non-motor symptoms appearing months or years before motor symptoms. This can make it challenging for doctors to diagnose you in the early stages, especially since the diagnostic criteria is based mostly on motor symptoms. You may have to wait until your symptoms progress for you and your doctor to confirm your diagnosis. 14 Age and gender can be another issue. Since Parkinson’s is associated more with older men, doctors may not think their younger or female patients have Parkinson’s. 5 On the other hand, since the disease is associated with aging, your symptoms may be blamed on “getting older.” Remember that movement disorder specialists are extremely knowledgeable about Parkinson’s disease and can help put the pieces together where other more generalized doctors may not. Never hesitate to fight for the care you deserve. Related: Here’s what’s important to remember if you were just diagnosed with Parkinson’s disease. What I Wish I Knew When I Was Diagnosed With Parkinson’s Disease Learn more about Parkinson’s:  Overview  | Symptoms   |  Treatment   |  Resources Sources Colino, S. (2015, November 11). The Truth About Essential Tremor: It’s Not Just a Case of Nerves. U.S. News & World Report. Retrieved from Corticobasal Degeneration. (n.d.). Retrieved from DaTscan. (n.d.). Retrieved August 8, 2019, from DaTscan Prices, Coupons & Patient Assistance Programs. (n.d.). Retrieved July 30, 2019, from De Leon, M. (2019, April 24). [E-mail interview]. Essential Tremor. (n.d.). Retrieved from Goetz, C. G. (2011). The History of Parkinsons Disease: Early Clinical Descriptions and Neurological Therapies . Cold Spring Harbor Perspectives in Medicine , 1 (1). doi:10.1101/cshperspect.a008862. Luca, C. (2019, April 24). [Telephone interview]. Marsili, L., Rizzo, G., & Colosimo, C. (2018). Diagnostic Criteria for Parkinson’s Disease: From James Parkinson to the Concept of Prodromal Disease . Frontiers in Neurology,9 . doi:10.3389/fneur.2018.00156 McKeown, M. (2019, May 6). [Telephone interview]. Multiple System Atrophy Fact Sheet. (n.d.). Retrieved from Progressive Supranuclear Palsy Fact Sheet. (n.d.). Retrieved from Progressive Supranuclear Palsy: PSP. (n.d.). Retrieved from Robb, K. (2019, May 5) [E-mail interview]. Seifert, K. D., & Weiner, J. I. (2013). The impact of DaTscan on the diagnosis and management of movement disorders: A retrospective study. American Journal of Neurodegenerative Disease, 2 (1), 29-34. Tagliati, M. (2019, April 25). [Telephone interview]. Tarakad, A., & Jankovic, J. (2018). Essential Tremor and Parkinson’s Disease: Exploring the Relationship . Tremor and Other Hyperkinetic Movements,8 . doi:10.7916/D8MD0GVR Visualizing Dopaminergic Transporter Status With DaTscan Adds Objective Evidence to Patient Assessment. (n.d.). Retrieved June 6, 2019, from What Is Lewy Body Dementia? (n.d.). Retrieved from Yang, L. (2019, May 3). [Telephone interview].

Parkinson's Disease Guide: Parkinson's Symptoms

Other sections of this Condition Guide: Overview    |    Diagnosis    |    Treatment    |    Resources What you’ll find in this section: Hallmark Motor Symptoms | Non-Motor Symptoms | Early Onset Parkinson’s Disease | Sex Differences: How Men and Women Experience Parkinson’s Disease | Factors That Can Affect Symptom Severity | Stages of Parkinson’s Disease | Causes of Parkinson’s-Related Death This section was medically reviewed by Kristin Andruska, MD, PhD, Head of the California Movement Disorders Center Understanding Parkinson’s Disease: What Does Parkinson’s Disease Feel Like? Parkinson’s disease is a neurodegenerative disease caused by a lack of dopamine produced in the substantia nigra — the part of the brain that controls your voluntary movements like swinging your arms or walking. The lack of dopamine, combined with the effects of a protein found in the brain called a-synuclein forming toxic clumps, and the loss of neurons, communication cells in other parts of the brain and nervous system, causes a wide range of symptoms. It’s important to remember, though, that not everyone with Parkinson’s disease experiences all possible symptoms. Each case is unique. Signs of Parkinson’s Disease Parkinson’s symptoms can be divided into two categories: motor symptoms and non-motor symptoms. Motor symptoms involve changes in how you move your body, and non-motor symptoms are other symptoms not related to movement. Both types of symptoms can be equally difficult to deal with. Until recently, doctors primarily focused on treating motor symptoms. Symptoms can vary in how severe they are from day to day — you might feel better one day and worse the next, or even better in the morning and worse later in the day. Severity also depends on how effective your medications are. Hallmark Motor Symptoms The term “motor symptoms” describes symptoms related to movement and changes to how you’re able to move or control your body. There are three hallmark symptoms doctors look at to determine if you have Parkinson’s disease: Tremor Slowness of movement Rigidity in your muscles If you have a certain combination of motor symptoms, plus a few additional findings (for example, how well you respond to medication) and you do not also meet criteria that suggest you may have a different diagnosis, then you will likely be diagnosed with Parkinson’s disease. Tremor A tremor is described as an uncontrolled shaking of a limb, typically your hand, foot, leg, jaw or head. This shaking occurs when you’re not using the limb, meaning the shaking stops when you purposefully move the tremoring part of your body. The tremor often starts on one side of your body, and almost always spreads to both sides. 23 This is because the breakdown of dopamine-producing cells that cause your tremor tends to start on one side of the brain, and gradually progresses to both sides. Bradykinesia Another term for bradykinesia is “slowness of movement.” In other words, you can’t move your body as fast as you would like. This often becomes apparent through everyday tasks that require fine motor movement, like combing your hair or buttoning clothes. 13 You may notice when you try to brush your teeth, for example, you can’t move your arm and hand very fast. Like tremor, you’ll typically notice the slowness of movement starts on only one side of your body in the beginning of your disease progression. Rigidity Rigidity is stiffness in your body. It feels like really tight muscles that you can’t extend or relax like you used to. 19 For example, you might feel like you have a frozen shoulder or no longer naturally swing one of your arms when you walk. You might chalk up these stiffness symptoms as “arthritis” or “getting older” and may not think too much about it initially, but a neurologist will ask about it on an exam. 23 Other Parkinson’s Motor Symptoms There are several other common Parkinson’s motor symptoms. These are related to the three hallmark symptoms of Parkinson’s and are often included in a doctor’s evaluation of whether or not you have Parkinson’s. These include: Problems With How You Walk A few characteristic Parkinson’s gait or walking patterns are a slow, shuffling pace; not picking your feet up very high off the ground or dragging your feet; having difficulty turning; and “festination,” which is when you are walking, steps get progressively smaller and faster. Freezing You likely won’t experience freezing until later on in your Parkinson’s progression. You feel as though you are “stuck” or “frozen” in one place and can’t move one foot in front of the other or start the first step. It tends to happen in places where you have to go through a door or turn or you are in a crowded environment or narrow space. Freezing is more than just a motor phenomenon — it involves having less cognitive control over walking. Just because you want to move doesn’t mean your brain can make it happen, because changes in your neurons make it difficult for you to tell your body to move like you used to. Freezing also includes changes in how you normally walk —  your gait might not be as smooth and even — as well as an emotional component, meaning freezing can be affected by stress or anxiety. 10 Difficulty Balancing When standing or walking, you might lose your balance or fall more easily than you used to. Like other movement or motor Parkinson’s symptoms, your balance will get worse as the disease progresses. Balance problems are caused by a variety of factors, including stiffness in your body, slowness of movement, freezing, and not having a grasp of your own body position and movement. Micrographia: Having Small Handwriting Having small handwriting may seem like an unexpected aspect of Parkinson’s, but it is quite common. Many people actually experience this symptom as one of their first signs of PD, years before other movement symptoms arrive. It is literally what the name describes: When you hold a pen or pencil and write on a sheet of paper, your numbers and letters are very small and “cramped”-looking. It is caused by a lack of dopamine in the part of your brain called the basal ganglia, which helps start and control your movements. 25 Without dopamine, the neurons in the basal ganglia cannot communicate with each other to produce smooth, controlled movement. Lack of Facial Expressions A lack of facial expressions is called “masked face,” where you don’t make facial expressions like you used to and appear to have the same expression despite changes in your mood. You might look unemotional even if you are still having many emotions. Masking is caused when the muscles in your face become rigid and unmoving, similar to muscles throughout the rest of your body. Stooped Posture Some people with Parkinson’s develop a common stooped posture, which includes hunched shoulders, a rounded back, dropping your head, bended knees, and/or leaning forward. It’s not clear exactly what causes stooped posture, but it is likely a combination of factors like body stiffness, a side effect of medication, tightening muscles along your back and spine, muscle weakness and not being aware of your own body position. 6 Non-Motor Symptoms Parkinson’s can cause symptoms that don’t have to do with changes in your movements and can show up months or even years before motor symptoms. The “prodromal” phase of Parkinson’s occurs early on when you have non-motor symptoms without severe enough motor symptoms to make a diagnosis. This stage can last for decades. 16 This phase is often characterized by symptoms unrelated to your ability to move your body. Even after motor symptoms appear, non-motor symptoms continue to be a part of the disease. Non-motor symptoms can be just as difficult to live with as motor symptoms (sometimes more so), and in the last 10 years or so, doctors have begun treating non-motor symptoms more regularly than they used to in decades past. 23 Difficulty Sleeping Sleep difficulties are common when you have Parkinson’s. You might not get good quality sleep or you may struggle to get enough sleep each night. 4 This could be caused by a couple of different factors like medication side effects, related conditions like depression, needing to urinate during the night, not being able to move comfortably in bed, and the condition itself because neurons break down in the parts of your brain that control sleep patterns. 21 One common sleep issue you might experience with Parkinson’s is REM sleep behavior disorder. REM sleep behavior disorder causes you to move in your sleep and act out dreams. For example, you might kick your legs or move your arms in a way that coordinates with what you are doing in your dream. Usually, during REM sleep, your body movements are automatically shut off to prevent you from getting hurt by acting out your dreams. REM sleep behavior disorder commonly occurs with Parkinson’s disease and other neurodegenerative disorders — one study found of over 1,200 people with REM sleep disorder, 73% developed Parkinson’s within 12 years. 18 Cognitive Issues Cognitive issues are when you have trouble processing information. This can manifest as problems with thinking and memory. You might feel like you have to wait for your mind to process auditory, written or verbal information — as if you were waiting on slow internet service. 4 You also may experience difficulty with word-finding. Multitasking, like talking and walking at the same time, can be a challenge too. 7 This is because it requires you to shift attention from one task to another. Chronic Pain Parkinson’s symptoms can cause chronic pain. You might experience joint pain, like your joint has limited motion or a pulling sensation; a tight or shooting pain sensation in your lower back and legs due to stiffness or rigidity; and central pain, which is pain caused by damage to your central nervous system (this encompasses your brain, brainstem and spinal cord). This causes a searing, burning sensation in the hands, feet, arms or legs that makes it painful to be touched. 4 Apathy Apathy is characterized by a loss of motivation to do things. You don’t feel like you have the energy to get up and participate in any of your usual activities, including social activities, leaving the house, and even basic things like showering or getting dressed. You may struggle with not feeling a “drive” to be active. 4 You might also feel emotionally “flat.” Seborrheic Dermatitis If you have Parkinson’s you may experience non-motor symptoms on your skin. Seborrheic dermatitis is a skin condition that can happen when your immune system gets overactivated and causes swelling or irritation that some people with Parkinson’s experience. It causes scaly patches and red skin on the scalp, face, upper chest and back, which are areas of your skin that produce sebum, an oily substance that helps moisturize your skin and hair. When too much sebum is produced, that’s when the symptoms of seborrheic dermatitis occur. We don’t know for sure why Parkinson’s may lead to seborrheic dermatitis, but one theory is that it is caused by issues in your autonomic nervous system, which controls many of the body’s functions like sweat, saliva and tears. Issues with functions controlled by your autonomic nervous system are a common symptom of Parkinson’s disease. 24 Parkinson’s Disease Dementia (PDD) It can often be confused with other types of dementia, but Parkinson’s disease dementia (PDD) is a specific symptom of Parkinson’s itself. In PDD, the symptoms of dementia (a condition that causes you to lose mental functioning like your memory) are caused by Lewy bodies, or abnormal clumps of the protein a-synuclein, that form in the brain. These harmful Lewy bodies lead to symptoms like loss of memory, confusion, difficulty concentrating, irritability, and changes in sleeping patterns and appetite, along with motor symptoms similar to regular Parkinson’s movement symptoms. Lewy bodies are a hallmark feature of Parkinson’s disease in general. Over a course of 20 years of living with Parkinson’s, most people (around 80% or more) will develop PDD. It’s unknown why some people with Parkinson’s go on to develop PDD and others don’t. Older age, a family history of dementia, experiencing hallucinations and delusions earlier in your Parkinson’s progression and having Parkinson’s for a long time appear to be risk factors. 5 Parkinson’s dementia is sometimes confused for Lewy body dementia because the two conditions can look quite similar. However, Lewy body dementia is a separate condition. Mental Health Symptoms Mental health symptoms like depression and anxiety are common in Parkinson’s disease not just because of the stress of having a chronic illness — they can also be caused by the condition itself. This is due to the loss of neurons in systems of your brain associated with mood. 14 You might feel emotional or hurt by situations that wouldn’t ordinarily be an issue. 7 In addition, some medications for PD can have depression, anxiety and impulse control disorders as side effects, or as a symptom of medications wearing off. 15 Feeling anxious or upset could also make your PD symptoms feel worse. Other non-motor symptoms can include: Soft voice or slurred speech Constipation Loss of smell Orthostatic hypotension, or a drop in blood pressure after standing up Sexual dysfunction, including erectile dysfunction and hypersexuality in men and loss of lubrication and involuntary urination in women 3 Urinary incontinence Vision problems, including double vision, reduced blinking resulting in dry eye, trouble with spatial awareness and less ability to recognize faces. 1 (Technically, this is considered a motor symptom because it is caused by a loss of eye and eyelid movement, but you’ll experience it more like you would a non-motor symptom.) Fatigue Drooling Excessive sweating Hallucinations and delusions Related: Here are some ways people describe the symptoms of Parkinson’s 7 Early Symptoms People With Parkinson’s Disease Noticed First How I Fight the Apathy That Can Come With Parkinson’s Disease When I’ve Fallen and Can’t Get Up Because of Parkinson’s Disease Early Onset Parkinson’s Disease Early-onset PD is defined as anyone diagnosed under age 50, which represents 10-20 percent of cases. The symptoms of early-onset Parkinson’s are generally the same as when you get it later on but tend to be less severe if you are younger. 17 However, you are more likely to have dystonia (involuntary muscle contractions) and dyskinesia (involuntary movement as a result of taking the medication levodopa, depending on your dosage) if you have early-onset PD. 11 The disease also tends to progress slower if you’re diagnosed at a younger age. You are more likely to remain in the phases before you experience significant disability longer than people who are diagnosed at older ages. 8 As a younger person with PD, you may feel the effects of symptoms differently since you are in a different place in your life than an older adult. For example, a tremor may impact your ability to perform certain jobs, or having very slow movements may make it difficult to play with your kids. 10 It’s important to remember that there are several different types of medications that can dramatically improve your symptoms, as well as lifestyle changes and exercises that help keep you functioning and living a full life. Related: These articles share what it’s like living with early-onset Parkinson’s. How My Childhood Parkinson’s Disease Diagnosis Transformed Me Into an Advocate Choosing Parenthood With Juvenile Parkinson’s Disease Sex Differences: How Men and Women Experience Parkinson’s Disease Parkinson’s has not typically been thought of as being different for men and women, but the medical community is starting to recognize some possible sex differences in terms of symptoms and your overall experience with the condition. Motor and movement symptoms are generally the same for all genders. However, women may experience more anxiety, depression and other non-motor symptoms and may experience changes in their menstrual cycle with PD symptoms. 10 Women may also experience some different side effects to medications. 4 There’s still a lot physicians don’t yet understand about sex differences, and more research is needed. Factors That Can Affect Symptom Severity One of the challenges of Parkinson’s is the severity of your symptoms can change from day to day due to a few different factors. One is sleep quality. If you get a good night’s sleep and prioritize sleep as part of your daily routine, you might find your walking, balance, stiffness, ability to think, process and remember information, and mood are better than if you had a bad night’s sleep. 4 Another factor is your eating schedule. You might discover the timing of your meals affects how your medication is absorbed and thus how effective it is. For example, if you eat a high-protein meal around the same time you take your levodopa medication, you might feel less benefit from your medications. 4 Stress can also cause symptoms to flare and medications to be less effective. As your stress levels decline, you may find your symptoms are more manageable. 19 Traveling can increase the severity of your symptoms since it often throws off your sleep, eating, stress levels and medication timing. 4 Finally, exercise can impact your symptoms in a beneficial way — it can help limit your symptoms in the short term, and has protective effect that can help slow down the progression of your disease over the long term. Stages of Parkinson’s Disease Parkinson’s disease is progressive, which means over time, symptoms get worse. However, its presentation and rate of progression differs from person to person. You may experience a very slow progression, with symptoms more like an “annoyance,” while others progress with worsening symptoms quicker. 27 There is currently no proven way to predict how quickly you will progress. Experts think if your most significant symptom is a tremor, you may progress slower, whereas if you have more challenges related to rigidity, stiffness and balance, you may progress faster. 11 Some genetic types of Parkinson’s may have different progressions, too. Scientists are continuing to research this area of Parkinson’s. Parkinson’s disease can be organized into rough “stages,” which give you and your physician a common language to describe your functioning. There are two scales doctors use to determine which stage of Parkinson’s you are in. The first is called the Hoehn and Yahr scale. It was originally published in 1967 in the journal of Neurology by Margaret Hoehn and Melvin Yahr. It divides Parkinson’s into five stages, based only on motor symptoms: 12 The five stages are: Stage 1 : Motor symptoms on one side of your body that don’t affect your daily activities Stage 2 : Motor symptoms on both sides of your body, but you’re still able to balance Stage 3 : Balance difficulties and unsteadiness, some limits to what you can do in your everyday life but still physically capable of leading an independent life Stage 4 : You are still able to walk and stand (often with a mobility aid), but your disability really impacts what you’re able to do Stage 5 : You are unable to walk and must use a wheelchair or remain in bed There isn’t a set time frame you stay in each stage, and there is no definitive linear progression for everyone, though the scale gives a general outline. In addition, if you have movement fluctuations where sometimes you are able to do more physically than other times, you can vary in your stage — for example, you might be in stage 4 when your medications are not working but in stage 2 or 3 when your medications are working. 11 The other scale doctors use is the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), which factors in non-motor symptoms as well as motor symptoms. 9 It is a four-part scale that includes patient-directed questionnaires about how you experience your symptoms, as well as a physician-directed movement disorders neurologic exam. The questions include five response options, from 0 to 4, with 0 being “normal” and 4 being “severe.” It consists of four parts. Part 1 includes questions about non-motor aspects of daily living, like daytime sleepiness, pain, urinary problems and lightheadedness. Part 2 includes questions about motor aspects of daily living, like speech, swallowing, handwriting, walking and getting out of bed. Part 3 is a motor examination that checks symptoms like your rest tremor, walking patterns and rigidity. Part 4 looks at motor complications, like time spent in the “off” state (time when your medications are not working) and time spent with dyskinesia (uncontrolled movements you may develop from using the medication levodopa for a long time). Once completed, the MDS-UPDRS scale can make it easier to track your motor state, progression over time and response to medications. 11 You may find it helpful to know which stage you are in or you may find it stressful. Since the progression of Parkinson’s can vary so much from person to person and is so hard to predict, it’s most productive to stay positive and focus on managing your symptoms as well as you can right now, rather than anticipating a certain future. 23 Related: Read this story for more insight on the what it’s like having a progressive disease. What It’s Like to Know My Parkinson’s Is Getting Worse  Causes of Parkinson’s-Related Death Parkinson’s disease is not considered a terminal condition, and many people live well for years or decades after their diagnosis. When Parkinson’s-related death does occur, it is typically not due to Parkinson’s itself, but related to complications caused by a few specific symptoms. One is difficulty swallowing, which can lead to inhaling food into the lungs that can cause pneumonia. Another potentially life-threatening symptom is difficulties with balance and walking, leading to falls. Parkinson’s dementia also can shorten your lifespan. Studies have found pneumonia, cerebrovascular disease (diseases that affect the blood vessels of the brain — a common form of this disease is a stroke) and heart disease are the most common causes of death in people with Parkinson’s disease, though it’s unclear if or how the latter two are caused by Parkinson’s. 22 Other factors may also have an impact. One study found people with Parkinson’s disease with what’s considered “normal” thinking, processing and memory abilities had a normal life expectancy. On the other hand, people with mild difficulties in their ability to think and process information, a “freezing” walking pattern, loss of smell, and high white blood cell count in the fluid in their brain and spine had a shorter life expectancy. 2 Overall, research on the effect of Parkinson’s on mortality is mixed. One study found death rates in people with Parkinson’s are about two times higher than the general population, although no significant difference is found for those under age 65. 26 Another study found on average, people with Parkinson’s die just one year earlier than the general population. 20 In general, it’s commonly said you die “with” Parkinson’s, not “because” of Parkinson’s. Learn more about Parkinson’s:  Overview  |  Diagnosis   |  Treatment   |  Resources Sources Armstrong, R. A. (2011). Visual Symptoms in Parkinson’s Disease . Parkinson’s Disease . doi:10.4061/2011/908306 Bäckström, D., Granåsen, G., Domellöf, M. E., Linder, J., Mo, S. J., Riklund, K., . . . Forsgren, L. (2018). Early predictors of mortality in parkinsonism and Parkinson disease . Neurology,91 (22). doi:10.1212/wnl.0000000000006576 Bronner, G., & Vodusek, D. B. (2011). Management of sexual dysfunction in Parkinson’s disease . Therapeutic Advances in Neurological Disorders,4 (6), 375-383. doi:10.1177/1756285611411504 De Leon, M. (2019). [E-mail interview]. Dementia. (n.d.). Retrieved May 31, 2019, from Doherty, K. M., Can de Warrenburg, B. P., Peralta, M., Silveira-Moriyama, L., Azulay, J., Gershanik, O. S., & Bloem, B. R. (2011). Postural deformities in Parkinson’s disease . The Lancet Neurology. doi:10.1016/S1474-4422(11)70067-9 Eagles, M. (2019, April 23). [E-mail interview]. Ferguson, L. W., Rajput, A. H., & Rajput, A. (2015). Early-onset vs. Late-onset Parkinson’s disease: A Clinical-pathological Study . Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques,43(1), 113-119. doi:10.1017/cjn.2015.244 Goetz, C. G., Tilley, B. C., Shaftman, S. R., Stebbins, G. T., Fahn, S., Martinez-Martin, P., . . . LaPelle, N. for the Movement Disorder Society UPDRS Task Force (2008). Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS): Scale Presentation and Clinimetric Testing Results . Movement Disorders,23 (15), 2129-2170. doi:10.1002/mds.22340 Goldman, J. (2019, May 3). [Telephone interview]. Goldman, J. (2019, June 12). [E-mail interview]. Hoehn, M. M., & Yahr, M. D. (1967). Parkinsonism: Onset, progression, and mortality . Neurology,17(5), 427-427. doi:10.1212/wnl.17.5.427 Malaty, I. (2019, May 13). [Telephone interview]. Marsh, L. (2013). Depression and Parkinson’s Disease: Current Knowledge . Current Neurology and Neuroscience Reports,13(12). doi:10.1007/s11910-013-0409-5 McKeown, M. (2019, May 6). [Telephone interview]. Moawad, H. (2018, October 08). Identifying Prodromal Parkinson Disease. Retrieved from Pagano, G., Ferrara, N., Brooks, D. J., & Pavese, N. (2016). Age at onset and Parkinson disease phenotype . Neurology,86 (15), 1400-1407. doi:10.1212/wnl.0000000000002461 Postuma, R. B., Iranzo, A., Hu, M., Hogl, B., Boeve, B. F., Manni, R., . . . Pelletier, A. (2019). Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: A multicentre study . Brain,142 (3), 744-759. doi: Robb, K. (2019). [E-mail interview]. Savica, R., Grossardt, B. R., Bower, J. H., Ahlskog, J. E., Boeve, B. F., Graff-Radford, J., . . . Mielke, M. M. (2017). Survival and Causes of Death Among People With Clinically Diagnosed Synucleinopathies With Parkinsonism . JAMA Neurology,74 (7), 839-846. doi:10.1001/jamaneurol.2017.060 3 Schrempf, W., Brandt, M., Storch, A., & Reichmann, H. (2014). Sleep disorders in Parkinson’s disease . Journal of Parkinson’s Disease,4 (2), 211-221. doi:10.3233/JPD-130301 Scorza, F., Carmo, A., Fiorini, A., Nejm, M., Scorza, C., Finsterer, J., & Ferraz, H. (2017). Sudden unexpected death in Parkinson’s disease (SUDPAR): A review of publications since the decade of the brain. Clinics,72(11), 649-651. doi:10.6061/clinics/2017(11)01 Tagliati, M. (2019, April 25). [Telephone interview]. Tanner, C., Albers, K., Goldman, S., Fross, R., Leimpeter, A., Klingman, J., & Eeden, S. V. (2012). Seborrheic Dermatitis and Risk of Future Parkinsons Disease (PD) (S42.001) . Neurology,78 (Meeting Abstracts 1). doi:10.1212/wnl.78.1_meetingabstracts.s42.001 Wu, T., Zhang, J., Hallett, M., Feng, T., Hou, Y., & Chan, P. (2016). Neural correlates underlying micrographia in Parkinson’s disease . Brain,139 (1), 144-160. doi:10.1093/brain/awv319 Xu, J., Gong, D., Man, C., & Fan, Y. (2014). Parkinsons disease and risk of mortality: Meta-analysis and systematic review . Acta Neurologica Scandinavica,129 (2), 71-79. doi:10.1111/ane.12201 Yang, L. (2019, May 3). [Telephone interview].

Resources That Can Help You Cope With Parkinson’s Disease

Other sections of this Condition Guide: Overview    |    Symptoms    |    Diagnosis    |    Treatment What you’ll find in this section: The Mighty’s Parkinson’s Community   |   National Parkinson’s Organizations   |   International Parkinson’s Organizations   |   Research Opportunities   |   If Your Loved One Has Parkinson’s Disease Parkinson’s Resources: Support for Living With Parkinson’s Getting diagnosed with Parkinson’s disease might feel like your life has suddenly taken an unexpected turn toward unfamiliar treatments, lifestyle changes and a whole new way of managing your health. It’s so important to find support, whether that’s through your loved ones, other people with Parkinson’s or Parkinson’s experts who can help guide you. To start, check out the following groups and organizations. You can also share these with your friends and family so they can better understand what you’re going through. Join The Mighty’s Parkinson’s Community On The Mighty, you’ll find insight and support about what to expect when living with Parkinson’s disease from others who are going through it, as well as people coping with other chronic illnesses. You can join The Mighty by visiting the website or iPhone or Android app. Once you’re a Mighty member, you can ask and answer questions to others in the community by posting a Thought or Question. Parkinson’s Disease on The Mighty The Mighty’s Parkinson’s disease page is a hub for our Parkinson’s community. Find articles written by people with Parkinson’s, news about the latest scientific developments and notable people with Parkinson’s, and helpful advice about diagnosis and daily challenges. You can also join conversations like this one, or start your own: What’s your best advice for someone just diagnosed with #ParkinsonsDisease ? The Mighty’s Chronic Illness Facebook page Follow The Mighty’s Chronic Illness page on Facebook to stay up-to-date on all the latest stories, insights, tips, and resources from other community members as they’re published. We also occasionally ask our Facebook community questions about their experience with chronic diseases such as Parkinson’s and include the responses in our articles, so follow the page if you want to participate. National Parkinson’s Organizations There are many nonprofit organizations dedicated to PD research, fundraising, support and resources. Here are a few of the largest ones. Also, remember there may be additional organizations in your local area, so do some research to find any others in your hometown to see what other support is available for you. Parkinson’s Foundation The National Parkinson Foundation and the Parkinson’s Disease Foundation, both founded in 1957, merged to form the Parkinson’s Foundation (PF). PF funds research, offers up-to-date information on its website and leads community events including the Moving Day Walk. Plus, if you need help figuring out where to go for treatment, PF has designated 45 PD treatment centers around the world as Centers of Excellence. Michael J. Fox Foundation Actor Michael J. Fox became one of the most famous people with PD after he revealed his diagnosis in 1998. He created his namesake foundation in 2000. Since then, the organization has granted over $800 million to fund research projects to find a cure and better treatments for Parkinson’s. They also have a searchable list of Parkinson’s specialists in every state. Davis Phinney Foundation for Parkinson’s Davis Phinney Foundation for Parkinson’s (DPFP) sets its focus on living well with PD today, rather than putting its resources toward a cure like many other organizations. DPFP’s Victory Summit symposia series brings local communities together for a day of learning about the latest information and practical tools about PD. The events are free and located around the U.S. You can also find videos, podcasts, webinars and printable guides on DPFP’s website. Parkinson Alliance The Parkinson Alliance is the umbrella organization for the Parkinson’s Unity Walk, an annual fundraising event, and Team Parkinson, which hosts other fundraising events around the U.S. The Alliance also funds grants to researchers and offers patient surveys to gain a better understanding of Parkinson’s. International Parkinson’s Organizations European Parkinson’s Disease Foundation The European Parkinson’s Disease Foundation is the only European Parkinson’s umbrella organization. Its online library is the largest in Europe for PD research and information, and the organization represents national Parkinson’s associations across Europe in advocating for policy change. Parkinson’s UK If you’re in the U.K., this organization offers support and information tailored for you. Parkinson’s UK offers a confidential helpline, local support groups, research funding and information about Parkinson’s disease on its website. The organization also offers a helpline to connect you with additional resources. Research Opportunities It’s certainly not a quiet time for Parkinson’s research. There are new studies happening at research institutions around the world, studying everything from biomarkers that could allow for a quicker diagnosis to possible new treatments, the effectiveness of non-PD medications on Parkinson’s disease and discovering a cure. Of course, every research study and clinical trial needs volunteers with PD. If you are interested in learning more about joining a study or trial, talk with your doctor about which opportunities might be right for you. You can also go online to find out about new studies and trials. The following two websites are great places to start. is a resource of the U.S. National Library of Medicine and features a search tool that allows you to find Parkinson’s studies in your country that are currently or soon-to-be recruiting participants. Use the search tools to enter Parkinson’s as well as your location, and look for studies that are labeled as “recruiting.” Fox Trial Finder The Michael J. Fox Foundation created the Fox Trial Finder, a tool for people with Parkinson’s to find studies and trials that need volunteers. Some of the studies are sourced from, but you may find it easier to browse the Fox Trial Finder since it is specific to PD. If Your Loved One Has Parkinson’s Disease Finding out a loved one has Parkinson’s can be a confusing, frightening experience. You likely want to help, but may not even be sure exactly what your loved one is going through or what you can do to help. To start, check out these stories written by people with Parkinson’s. They can give you insight into the physical and emotional impact of PD and help you understand where your loved one could use some support. 12 Things You Don’t Understand About Parkinson’s Unless You Have It What It Feels Like to Be ‘On’ With Parkinson’s Disease Is There Anything Good About Living With Parkinson’s? These Women Say Yes! When My Mom Agreed to Let Me Document Her Life as an Artist With Parkinson’s 7 Early Symptoms People With Parkinson’s Disease Noticed First The ‘Lord of the Rings’ Quote That Reveals the Choice People With Parkinson’s Have to Make 7 Things Healthy ‘Parkies’ Do Choosing Parenthood With Juvenile Parkinson’s Disease How I Fight the Apathy That Can Come With Parkinson’s Disease Learn more about Parkinson’s:  Overview  | Symptoms   |  Diagnosis   |  Treatment

Treating Parkinson's Disease

Other sections of this Condition Guide: Overview    |    Symptoms    |    Diagnosis    |    Resources What you’ll find in this section: Medications   |   Levodopa Side Effects: Dyskinesia  |   Other Dopamine Replacement Drugs   |   Other Drugs Used for Parkinson’s Disease   |   Using Non-Parkinson’s Drugs to Treat Symptoms   |   “On” and “Off” Periods   |   Surgery: Deep Brain Stimulation   |   Exercise   |   Other Therapies   |   Community Recommendations This section was medically reviewed by Brent Bluett, M.D. What Treatments Work for Parkinson’s Disease? It can be scary to get a diagnosis of Parkinson’s disease, but what many people don’t realize is there are many treatment options, including medications, therapies, surgery and lifestyle changes that can help lessen the impact of your symptoms. There is no one-size-fits-all treatment, and not everyone experiences improvements from treatments. That being said, there are three treatments generally accepted to be the most effective: medication, deep brain stimulation surgery and exercise. Medication Your doctor will talk to you about several different medication options, though a few are generally considered more effective than others. It’s important to remember that most Parkinson’s medications only really target movement symptoms, which can be frustrating if you are struggling with non-movement symptoms like fatigue and brain fog. However, when it comes to movement symptoms such as slowness, stiffness, tremor, and difficulty walking, Parkinson’s medications can greatly improve your quality of life. Levodopa Levodopa (also called L-DOPA) has been the gold standard treatment for the motor symptoms of Parkinson’s disease since 1967 when a landmark study revealed that gradually increasing the dosage of levodopa given to patients led to dramatic improvements in motor symptoms. 28 Levodopa is a drug that is converted to dopamine in the brain, which makes it the closest thing people with Parkinson’s can get to the “real stuff.” 13 This means when it’s working, levodopa improves symptoms like rigidity or stiffness, slowness of movement and tremor, though it does not slow down the progression of the disease. One of the challenges of levodopa is that it is a short-lasting medication because it gets converted into dopamine quickly. 1 This means it usually needs to be taken several times per day to maintain its effect. Also, just as levodopa is converted to dopamine in the brain, it is also converted to dopamine in the rest of the body, which can cause its most common side effect, nausea. Levodopa is frequently paired with carbidopa, a drug that prevents levodopa from being converted to dopamine outside the brain and also helps prevent nausea. You will likely see your prescription labeled as “carbidopa-levodopa” indicating the pairing of these two drugs. Carbidopa-levodopa can be taken in several different ways: Pill/tablet Pills or tablets come in two formulations: immediate release (the drug works quickly, for a shorter period of time) and extended-release (the pill releases the drug into your system over a longer period of time). As the disease progresses, you may need to take the pills more frequently in order to maintain the medication’s positive effects and keep you “covered” after doses wear off. Pill and tablet brand names include : Sinemet (immediate-release carbidopa-levodopa) Sinemet CR (extended-release carbidopa-levodopa) Rytary (extended-release carbidopa-levodopa, a formulation designed specifically to provide longer-lasting benefits) Parcopa (extended-release carbidopa-levodopa that dissolves on the tongue, ideal for people with trouble swallowing) Lodosyn (carbidopa only — you might take this as a way of extending the effectiveness of your other levodopa/carbidopa medication or to reduce nausea, a common side effect of levodopa). Madopar/Prolopa (levodopa-benserazide — benserazide provides the same function as carbidopa but it is not approved for use in the U.S. You may see this as Madopar in the U.K. and Prolopa in Canada.) Note that in July 2019, drug manufacturer Merck announced that Sinemet CR will no longer be available in the United States. If you want to take Sinemet CR, you will have to switch to a generic version. Infusion The infusion method of taking your medication provides carbidopa-levodopa in a gel formulation that is infused through a PEG-J tube in your intestine, delivered through a pump continuously over 16 hours a day. This requires surgery to create a small hole, called a stoma, in your stomach. Then, a tube is placed through the hole that connects your intestine to a pouch outside your body, which contains a pump and a “cassette” of a gel formulation of levodopa-carbidopa. This surgery is a common, routine procedure that takes about 30 to 45 minutes, and should require a recovery time of a few days. 29 The infusion pump is programmed to release gel continuously from the time you wake up until the time you go to sleep. You will need to change the cassette once or twice a day. 15 This procedure is typically used when Parkinson’s disease has progressed, and you require more frequent doses of oral carbidopa-levodopa. 36 With an infusion, you get a continuous supply of carbidopa-levodopa delivered directly to your gut, bypassing the difficulties associated with frequently taking pills. The brand name of this formulation is Duopa. Inhaled Powder An inhaled powder formulation of levodopa is ingested using an inhaler-like tool. It was designed to be taken as needed when your other medication wears off and you begin to experience an “off” period when your symptoms are worse. 20 You might try this formulation if you are having more off periods and want immediate relief when you feel the symptoms come on — it is designed to work within about 30 minutes. 18 The brand name is Inbrija. Levodopa Side Effects: Dyskinesia One side effect of levodopa is dyskinesia: uncontrolled, involuntary muscle movement. One way to describe dyskinesia is feeling like you’re a puppet being controlled to move at triple speed. 9 The movement can range from small twitches to more disruptive flailing and wriggling of your limbs and body parts. As Parkinson’s progresses and the amount of internal dopamine your body produces decreases, you become more dependent on the levodopa you’re getting from your medication (i.e. levodopa/carbidopa). 13 When your body is not producing enough dopamine and the medication has worn off, you may have difficulty moving, “freezing” (this is when you are unable to take a step forward despite having the intention to do so), slowness of movement, and rigidity or stiffness. To treat these symptoms, you may require more doses of levodopa, which can then result in excessive movements, aka dyskinesia. 31 To help you experience less dyskinesia, your doctor might tinker with the dosage of levodopa you’re already taking, perhaps advising you to take it less frequently or at a different dose than you were before. You also might be prescribed the medication amantadine (brand names: Symmetrel, Osmolex, Gocovri), which was originally used as an antiviral drug but in recent years has been used to treat dyskinesia in Parkinson’s. 25 Amantadine is usually used in addition to carbidopa-levodopa to reduce medication-induced dyskinesia. Another option to reduce dyskinesia is to take a dopamine-replacement drug besides levodopa, called a dopamine agonist, which is less likely to cause dyskinesia — in fact, this is the main advantage to dopamine agonists and a major reason why they were developed in the first place. 25 However, dopamine agonists are generally considered less effective than levodopa and are more likely to cause other side effects including psychosis, the formation of extra and potentially harmful body tissue in your lungs, or an irregular heartbeat. 25 On the other hand, you might decide you’re OK with some mild dyskinesia symptoms and opt not to treat it at all. Some people find that the benefits they get from levodopa outweigh the downsides of dyskinesia, and would rather keep their drug regimen the same. 25 That’s a decision you can make with your doctor. Should You Wait to Start Taking Levodopa? There is a common misconception levodopa is dangerous and you should wait to start taking it as long as possible, it only works for a few years, or it will make your Parkinson’s disease progress faster. However, these concerns are a myth if it is managed appropriately. 35 Levodopa has been used since the 1960s and there is no evidence that it is harmful to the brain. In fact, levodopa may have a slight protective effect. 25 Medical professionals are more focused on helping your brain stay as normal as possible for as long as possible, rather than under-treating for the theoretical benefit of taking fewer medications. In addition, levodopa can make you more mobile so you can exercise more, which is another important (and effective) treatment strategy. Other Dopamine Replacement Drugs Although levodopa is the gold standard and generally accepted to be the most effective treatment for Parkinson’s, there are a few other options. Since we know that long-term levodopa use can lead to the movement issues of dyskinesia, you might want to try another medication first 37 (for example, if you are diagnosed with early-onset Parkinson’s, you could take levodopa for a long time). Some dopamine replacement drugs can also help levodopa work better. Dopamine Agonists A dopamine agonist drug directly stimulates your dopamine receptors in your brain, similar to how “real” dopamine would. In order to carry out its functions in the body, dopamine must first attach to “receptor” proteins in the brain, which help signal other cells on how to behave. While dopamine agonists don’t turn into dopamine the way levodopa does, they stimulate dopamine receptors without binding to them and ultimately have similar effects in the brain. You can use an agonist instead of levodopa (most frequently recommended for younger patients), or in combination with levodopa. You might also use an agonist if avoiding dyskinesia is a priority for you. Brand name dopamine agonists include Mirapex (pramipexole), Requip (ropinirole), Neupro (rotigotine — this is a skin patch), and Apokyn (apomorphine — an extremely fast-acting drug delivered through an injection if your other medication wears off suddenly, leaving you immobile). It’s important to note that agonists can cause serious side effects. 6 One side effect is impulse control disorders, such as problems with gambling, obsession with sex or shopping. Other possible side effects include hallucinations and excessive daytime sleepiness. Quitting an agonist suddenly can also bring on withdrawal symptoms. MAO-B Inhibitors MAO-B inhibitors disrupt the activity of a molecule that breaks down dopamine in the brain, which allows dopamine to function for a longer period of time. 32 You could take an MAO-B inhibitor alone while the disease is mild, or alongside levodopa medication to help it last longer. Brand name MAO-B inhibitors include Azilect (rasagiline), Eldepryl (selegiline), Zelapar (selegiline) and Xadago (safinamide). Potential side effects include nausea, dry mouth, dizziness, confusion and insomnia. You can’t take the brand name extended release levodopa-carbidopa drug Rytary and a MAO-B inhibitor within two weeks of each other because this can cause high blood pressure. COM-T Inhibitors Like MAO-B inhibitors, COM-T inhibitors prevent dopamine from being broken down (COM-T inhibitors just act on a different molecule than MAO-B inhibitors). This allows more levodopa to be available for conversion into dopamine, thereby increasing the amount of time it’s effective. 5 Unlike MAO-B inhibitors, COM-T inhibitors can only be used with levodopa, not alone. Since both MAO-B and COM-T inhibitors work similarly, you shouldn’t take them both at the same time. Brand name COM-T inhibitors include Comtan (entacapone), Stalevo (levodopa/carbidopa and entacapone) and Tasmar (tolcapone). Side effects include orange discoloration of urine, nausea, drowsiness, diarrhea and dyskinesia. Other Drugs Used for Parkinson’s Disease While most Parkinson’s medications are based around increasing the amount of dopamine available to your brain, there are a few other medications that work differently. Parkinson’s disease can cause a unique assortment of symptoms, and for this reason, the following medications are used on a case-by-case basis. Depending on your symptoms, your doctor might feel like there is a place for these drugs in your treatment. Anticholinergics Anticholinergic drugs are used to treat conditions that involve contraction and relaxation of your muscles. They work by inhibiting acetylcholine, a neurotransmitter in your central nervous system that helps regulate movement.Before levodopa was introduced, anticholinergics were the primary treatment for Parkinson’s disease, but today are used only sparingly, primarily for younger people. It most effectively treats tremor and dystonia — abnormal, involuntary muscle contractions. 19 Anticholinergics are typically avoided in older patients because they can worsen cognition. Brand names include Cogentin (benztropine) and Artane (trihexyphenidyl HCL). Possible side effects include nausea, dry mouth, memory problems and vision changes. Pimavanserin (Brand Name Nuplazid) One possible symptom of Parkinson’s is hallucinations and delusions, typically occurring later in the disease progression. Pimavanserin (brand name Nuplazid) was developed specifically to reduce the number of hallucinations and delusions you experience. Possible side effects include swelling in your legs and arms, feeling confused, and an increased risk of death if you also have dementia-related psychosis. 2 Rivastigmine (Brand Name Exelon) Rivastigmine (brand name Exelon) was developed to treat dementia caused by Alzheimer’s or Parkinson’s disease. It may also help to reduce the frequency of hallucinations. It works by increasing the amount of acetylcholine in the brain by preventing its breakdown. It comes in a pill, liquid solution and a skin patch. Possible side effects include nausea, tiredness, stomach problems, depression and difficulty sleeping. 11 Droxidopa (Brand Name Northera) One common symptom of Parkinson’s is orthostatic hypotension, which means that your blood pressure drops when you stand up, causing you to feel dizzy, lightheaded or like you’re about to blackout when you stand. Droxidopa (brand name Northera) was developed to treat sudden blood pressure drops after standing due to Parkinson’s. Possible side effects of this drug include high blood pressure while lying down, narrowed or blocked arteries in your heart, irregular heartbeat and headache. 26 Using Non-Parkinson’s Drugs to Treat Symptoms As you may have noticed, most Parkinson’s drugs primarily treat motor symptoms. That means your non-motor symptoms like fatigue, sleep issues and constipation likely won’t be helped by specific Parkinson’s drugs. However, you can still take drugs that aren’t designed specifically for Parkinson’s disease to treat these symptoms. For example, you might try an anti-anxiety medication or a sleep medication to treat insomnia. Your doctor should be familiar with which drugs could interact with other Parkinson’s medications you’re taking, and which ones are safe to use. 25 CBD and Parkinson’s Now that cannabis is gradually becoming more mainstream (and legal, at least in many places at the state level — click here to find out if cannabis is legal in your state), you may be curious to see if CBD will help treat any of your symptoms. Because medical cannabis as a treatment is so new and still experimental, there isn’t a lot of research about how effective it is for Parkinson’s symptoms. There are currently no federally-approved cannabis treatments for Parkinson’s. There are a few small studies, however, that researched cannabis and Parkinson’s. One found that CBD (without THC, a part of cannabis that doesn’t cause psychoactive effects) helped decrease symptoms of Parkinson’s-induced psychosis. 38 Another small study found that CBD along with THC (the part of the cannabis plant that does cause psychoactive effects) helped decrease pain associated with Parkinson’s, along with tremor and slowness. 21 There is also a study that found CBD improves quality of life but not motor symptoms 7 Because research is so limited and mixed, you should consult with your doctor before trying any CBD or cannabis products. Cannabis can react with certain medications, so it’s important to exercise caution. “On” and “Off” Periods With Parkinson’s As your Parkinson’s progresses over the years, you will probably start to notice even though you’re still taking your carbidopa-levodopa regularly, you experience periods where it’s working effectively (aka “on”) and then periods where the medication seems to not be working (aka “off”). When you’re “on,” you should feel like you can move more normally, with less tremor, stiffness and/or slowness. And then when you’re “off,” all those stiff, rigid, slow movements and your tremor return, almost as if your medications have decided to stop working. Frustratingly, it can be hard to predict exactly how long your “on” and “off” periods will last. “Off” periods are a result of the disease progressing and becoming harder to control through medication. When you first start medication, it’s common to go through a “honeymoon period” of several years, where it’s working well and you can hardly tell you have Parkinson’s. 23 Then, as the condition progresses, your body produces less dopamine, making you more dependent on your dopamine-replacement medication. Over time this leads to more and more instances where the medication is supposed to kick in, or supposed to last for several hours, but is less effective. 31 To manage these “off” periods, your doctor will first make sure you are taking your medication as prescribed — it’s important to follow your medication schedule since it can take time for the effects to fully kick in. You can make things worse by changing the times and dosages without a doctor’s approval. 25 Then, your doctor can start tinkering with your medication, perhaps having you take your levodopa more frequently, or adding a MAO-B inhibitor, COM-T inhibitor or dopamine agonist to try and smooth out the fluctuations of levodopa in your system. 31 However, if you’re trying these strategies and still not able to control or manage your motor symptoms, that’s when it may be time to talk about levodopa-carbidopa intestinal gel (discussed earlier) or deep brain stimulation surgery. This whole process, from when you start taking medication to when you start considering surgery, can take 10 years or more. 31 Another option some experts suggest is to go for surgery earlier in your disease progression, like within the first three to five years, to potentially avoid having to deal with medication fluctuations and side effects. What It Feels Like to Be ‘On’ With Parkinson’s Disease Surgery: Deep Brain Stimulation for Parkinson’s Disease Deep brain stimulation (DBS) is a surgery used to control Parkinson’s motor symptoms including tremor, slowness of movement and stiffness. DBS was FDA-approved for Parkinson’s disease in 2002 and works by delivering electrical pulses to specific areas of your brain that control movement. These electrical pulses disrupt the abnormal nerve signaling happening in your brain (thanks to your loss of dopamine and other brain changes caused by Parkinson’s). By interrupting the abnormal signals, DBS can improve your motor symptoms, reduce on/off fluctuations and reduce the severity of dyskinesia (muscle movement you can’t control). 16 Some new research suggests DBS used in people with early-onset Parkinson’s may actually slow down the progression of tremors. 14 If you undergo DBS, you will likely be awake for the first part of the surgery, although DBS can in some cases be performed under general anesthesia, while you’re asleep. 9 Talk to your doctor about which option makes the most sense for your body. Here’s what you might expect if you and your doctor decide DBS is right for you. The first step is placing a “halo” — a metal ring screwed into your head that keeps your head from moving. Local anesthesia is provided so it is not painful. However, some surgeries are now “frameless” and don’t require a halo. Then, you’ll receive a local anesthetic while a small hole is made in your skull, near your ear. Through this hole, a wire connected to an electrode (a thin metal device that conducts electricity) is placed in one or both sides of your brain in the areas that control movement. The wire and electrode are very thin. 8 The surgeon will use computer-generated images of your brain to pinpoint the location where the electrodes should be placed, and will use surgical tools to physically insert the electrodes. No pain medication is needed while the electrode is implanted in your brain because there is no sensation in your brain. To make sure the electrode is placed in the right spot in your brain, the surgeons will temporarily stimulate the electricity and see if it affects your motor symptoms, and make sure nothing else in your brain is affected. (If you’re awake, you can talk to your surgeons and let them know how you are feeling). The whole procedure takes around three to six hours. After a week or so healing process (you might feel foggy, fatigued or just “out of it” 9), you will have another surgery to implant the neurostimulator device in your chest to stimulate the electrodes in your brain, unless you had both surgeries done simultaneously 9. Under general anesthesia, a wire is run from the electrode in your brain, under your skin, down your neck and into the device implanted in your chest, under your skin. This device contains a battery and is the source of the electricity that stimulates the electrodes in your brain. A few weeks later, after your surgery incisions have healed and you are clear of any infection, your doctor will then work with you to adjust the settings of the stimulator so you get the right amount of electrical stimulation delivered to your brain while avoiding potential side effects. For example, the stimulation can be turned up higher if you are still experiencing a tremor. 23 It could also be turned lower if you are experiencing dyskinesia (excessive involuntary movements). You and your doctors will know it’s working when you are experiencing less tremor, slow movement and rigidity. Receiving stimulation shouldn’t be painful. Depending on your symptoms, you might have constant, continuous stimulation, or you might turn the device off at night or other times of the day you don’t need stimulation. It can take several doctor’s visits to get the settings just right. You’ll also have a handheld programmer device you can use to turn the stimulator on, off, or possibly adjust the settings. 23 For example, if you are experiencing worse symptoms, you may be able to adjust the stimulation to get some relief. You might not always adjust it perfectly, but with some tweaking and help from your doctor, you can often get back on track. 9 If you have a rechargeable neurostimulator device, you will need to charge it periodically, by placing a special antenna device on your chest, on your skin over your neurostimulator. This device connects to a recharging device via a wire. The recharging device will then recharge the neurostimulator battery. You will need to have another surgery to replace the neurostimulator in about 10 to 15 years when the battery wears out. If you don’t have a rechargeable neurostimulator, you will need to have another surgery to replace your neurostimulator usually every two to five years. Keep in mind that higher DBS settings drain the battery more quickly and may require more frequent battery changes. DBS is regarded as safe and effective and helps a majority of patients improve their movement symptoms and could even help you reduce the number of drugs you need to take. 23 People who respond to medications typically respond similarly to DBS, whereas patients who do not respond to medications often do not benefit from DBS and may not be recommended for surgery. 31 DBS candidates also shouldn’t have cognitive issues, like thinking or memory problems. If you do have some cognitive difficulty, DBS may make those issues worse. 17 Other risks include a small chance of brain hemorrhage where an artery bursts in your brain, a brain or spinal cord fluid leak, or infection. DBS side effects can include temporary tingling in your face or limbs, allergic reaction to the implant, speech or vision issues, and dizziness. 8 It’s important to remember that DBS only helps your main motor symptoms. 37 Imbalance, freezing of gait, and swallowing difficulties are unlikely to improve with DBS and may worsen after surgery. It is extremely important to have DBS performed at an experienced center, where a panel of experts will evaluate your overall health to determine if you are a good candidate for the surgery. Exercise At the same time you’re working with your doctor on figuring out your medication regimen, you should also look at one important way to manage your symptoms without medication: exercise. Studies show aerobic exercise that gets your heart rate up increases the amount of dopamine your body produces. Exercise can also improve your coordination, strength, balance, your cells’ production of energy, and brain function, and it may even slow down disease progression. Exercise also helps improve non-motor symptoms like depression, sleep and quality of life. Any type of exercise is better than no exercise — the important thing is that you keep moving. Try walking, using the equipment at the gym, swimming, hiking, dancing, biking, yoga… anything you enjoy that gets you moving and is safe to do. There are even exercise classes specifically designed for people with Parkinson’s disease. These classes offer exercises tailored to movement issues you’re having, as well as a social benefit of meeting other people with Parkinson’s disease. The best-known of these Parkinson’s exercise classes is Rock Steady Boxing , a nonprofit that offers boxing classes for people with Parkinson’s disease. It was founded in 2006 by a former lawyer who was diagnosed with Parkinson’s at age 40, and his friend, a boxer. 34 Rock Steady Boxing classes can be found around the world and address Parkinson’s symptoms in a few specific ways. Boxing uses both sides of your body in opposition (for example, right arm and left leg movement), which can be great for improving coordination and strength. It has a thinking and memory-building element too since you have to remember a sequence of moves. It can also help with your voice since you need to call out different numbers. In addition, it provides time to socialize with others who get what you’re going through and feels empowering. 13 You may be able to find other Parkinson’s exercise classes by doing some research in your own community. But at the end of the day, the most important thing is that you get some form of regular exercise. Check out this video for more on why exercise should be a regular part of your treatment. Other Therapies to Consider Trained therapists across a number of disciplines can work with you to develop exercises and lifestyle strategies to improve specific challenges you’re having as a result of Parkinson’s disease. You don’t have to wait until you’re struggling to seek out a therapist — it’s important to intervene early. These lifestyle changes will hopefully benefit you now and down the road. 37 Physical Therapy A physical therapist can help you do exercises to improve your balance, gait, coordination and dealing with symptoms like freezing. For example, a physical therapist can teach you to cope with freezing episodes by using a laser which projects a line on the ground, stepping over such lines on the ground to cue your brain to start moving again, and walking assisted by rhythmic musical cues. 13 One specific type of physical therapy for Parkinson’s is LSVT BIG, which utilizes overexaggerated movements to retrain your body’s smaller, slower movements caused by Parkinson’s. For example, buttoning a button with more purposeful, forceful movements, like you’re “angry” at the buttons, can help you button faster. 22 Some research found LSVT BIG to be more effective at improving your movement abilities than general exercise. 24 (Though you may find both helpful.) Occupational Therapy Occupational therapists teach you how to do everyday activities that have become difficult for you. For example, how to do daily tasks when you have a tremor (like putting on socks or brushing your teeth) and how to keep track of when your food has gone bad after you lose your sense of smell. 13 Speech Therapy Speech therapy helps you deal with vocal issues like a soft voice or slurring words, as well as swallowing issues. 25 One specific type of speech therapy is LSVT LOUD, which coaches you to use a louder voice. Research demonstrates this therapy can improve vocal volume and vowel quality. 12 Social Worker or Case Worker A social worker can help you find mental health treatment, home health care programs, programs that provide financial assistance if you are unable to work and help with organizing childcare. They can help you identify which parts of your life are a struggle for you, and help connect you with resources to solve those problems. Mental Health Support Mental health is a significant component of Parkinson’s disease, both as a symptom and side effect of brain changes associated with Parkinson’s, medications and the overall stress of dealing with a chronic illness. Don’t be afraid to talk with your doctor about seeing a mental health professional like a psychiatrist, psychologist or therapist, or joining a support group. These professionals can help you with coping strategies and, if appropriate, mental health medications. 13 Mobility Devices As your disease progresses, you may find yourself having more difficulty with balance, walking, standing and stamina. Wheelchairs, scooters, walkers and canes are important tools that can prevent falls and other injuries and allow you to be more independent and go where you want. If you don’t like the thought of using a walker or other assistive devices, remember it’s important to protect you from falling and breaking a bone, which can be very dangerous. 25 Nutrition There is no specific “Parkinson’s diet,” though some research suggests following a Mediterranean diet consisting of vegetables, legumes, fruit, cereals, unsaturated fatty acids, fish and wine with low-to-moderate dairy, meat and poultry and limited processed foods and sweets is associated with a lower risk of developing Parkinson’s disease. 3 In addition, since constipation is a common Parkinson’s symptom, it’s a good idea to eat high fiber foods and drink plenty of water to keep your digestive system moving. 13 One specific dietary requirement you should be aware of is that protein can interfere with your absorption of the medication levodopa. Levodopa competes with protein to be absorbed in your gut, so protein from your food may get absorbed while the levodopa doesn’t, reducing its effectiveness. For this reason, it’s best to take levodopa around 45 minutes before you eat or 60 minutes after you eat so you leave a gap that allows the medication to be absorbed without competing with food. 13 Social Support Like many (if not most) other illnesses, Parkinson’s can feel much more manageable if you have a strong support system of family and friends. People who report having strong social support also tend to describe having a more positive life experience with Parkinson’s. 4 Fighting loneliness by spending time with loved ones can help reduce depression, keep you more physically active, reduce stress by providing support for everyday tasks (like rides to doctor’s appointments and help shopping) and help you stay engaged in your hobbies and interests. Alternative Therapies Alternative or complementary therapies include things like acupuncture, massage and herbal medicine. There is not a lot of documented evidence complementary methods help Parkinson’s more than medication and exercise. These therapies have not been studied specifically for Parkinson’s disease and don’t come with a list of potential side effects, dosages, risks or instructions specific to Parkinson’s disease. But just because there isn’t a list doesn’t mean there aren’t risks, like interacting with other medications you’ve been prescribed. Always check with your doctor before trying a new treatment method. 37 That being said, the following therapies may be of interest to you. Mindfulness Mindfulness focuses on becoming more aware of your body and the present moment you are in. Some research found mindfulness techniques led to a small increase in reported pain, but also improvements in motor symptoms and increased reported quality of life. 30 Whether you practice mindfulness or other forms of stress-reduction, like meditation, massage, art or music therapy, or reiki, it’s important to seek out ways to reduce your overall stress levels, as stress can make symptoms feel worse. 33 Find your favorite ways to cope with stress and incorporate them into your routine. Supplements Supplements should be taken with extreme caution under a doctor’s supervision. Some supplements affect how quickly you will absorb your other medications, so it can be dangerous to take them without a doctor’s input. One supplement is velvet bean (mucuna pruriens), which contains naturally-occurring levodopa. If you don’t want to take levodopa medication, your doctor might be OK with you taking velvet bean so you at least get a little levodopa in your system. 25 However, the amount of dopamine in each dose of mucuna pruriens can vary, and therefore may cause unpredictable side effects. Again, talk to your doctor before trying any supplements. Positive attitude “Thinking positively” is certainly not a “cure” for Parkinson’s disease, and you should never feel pressured to “just be positive” all the time. However, your outlook on your disease and future can make a difference in how you approach the condition — and how you experience it. Two people can have the same “version” of Parkinson’s, but one person’s outlook might be more hopeful: for example, they exercise, take charge of their health and focus on having a hopeful view of their future. The person with a worse outlook, who doesn’t exercise, doesn’t take an active role in their care and focuses on the negatives, may not do as well. 37 Positivity can look different for everyone. Maybe for you, a positive attitude is cultivated through faith; for someone else, focusing on hobbies, friends and family helps them stay hopeful. A positive outlook isn’t a cure-all, but it certainly doesn’t hurt. Parkinson’s Community Recommendations Mighty community member Allison shared these top seven things healthy “Parkies” do, which can serve as a guide to help integrate healthy ways of getting ahead of your Parkinson’s: Don’t treat exercise as optional. Follow through with your neurologist’s recommendations. Don’t see yourself as weak or a burden. Regardless of diagnosis, remain grateful. Be your own advocate. Give yourself permission not to be perfect. Beef up your PD “wolfpack” — your support system. Discover why these seven tips are so important here. Another member of our Parkinson’s community, Bruce Ballard, shared his “seven habits of highly effective Parkies.” Check them out below: Exercise frequently and (if you can) walk everywhere. Challenge yourself with simple tasks Parkinson’s disease tried to put a stop to. Listen to your favorite music on playlists, but play the songs in random order. Balance what you eat to avoid constipation and its opposite partner in crime, fecal incontinence. Learn something new. Maintain good sleep hygiene. Socialize and have fun. Learn more about Parkinson’s:  Overview | Symptoms | Diagnosis | Resources Sources Abbott, A. (2010). Levodopa: the story so far . Nature, S6–S7. doi: About NUPLAZID® (pimavanserin) (n.d.). Retrieved from Alcalay, R. N., Gu, Y., Mejia-Santana, H., Cote, L., Marder, K. S., & Scarmeas, N. (2012). The association between Mediterranean diet adherence and Parkinsons disease . Movement Disorders , 27 (6), 771–774. doi: 10.1002/mds.24918 Ambrosio, L. C., Portillo, M. M., Rodriguez‐Blazquez, C. R., Rojo, J. C. M., Martinez‐Martin, P. C., Violante, M. S., … undefined, undefined undefined. (2019). Influencing factors when living with Parkinson’s disease: A cross‐sectional study. Journal of Clinical Nursing , 28 (17-18), 3168–3176. doi: 10.1111/jocn.14868 Bonifacio, M. J., Palma, P. N., Almeida, L., & Soares-da-Silva, P. (2007). Catechol‐O‐methyltransferase and Its Inhibitors in Parkinson’s Disease. CNS Drug Reviews , 13 (3), 352–379. Retrieved from Borovac, J. A. (2916). Side effects of a dopamine agonist therapy for Parkinson’s disease: a mini-review of clinical pharmacology . Yale Journal of Biology and Medicine , 89 (1), 37–47. Chagas, M. H., Zuardi, A. W., Tumas, V., Pena-Pereira, M. A., Sobreira, E. T., Bergamaschi, M. M., … Crippa, J. A. (2014). Effects of cannabidiol in the treatment of patients with Parkinson’s disease . Journal of Psychopharmacology , 28 (11), 1088–1098. doi: 10.1177/0269881114550355 Deep Brain Stimulation. (n.d.). Retrieved from . Eagles, M. (2019, April 23). [E-mail interview]. Eagles, Matt. (2019, August 20). [E-mail interview]. EXELON PATCH. (n.d.). Retrieved from Fox, C., Ebersbach, G., Ramig, L., & Sapir, S. (2012). LSVT LOUD and LSVT BIG: Behavioral Treatment Programs for Speech and Body Movement in Parkinson Disease . Parkinsons Disease, 2012 , 1–12. doi: 10.1155/2012/391946 Goldman, J. (2019, May 3). [Telephone interview]. Hacker, M. L., Delong, M. R., Turchan, M., Heusinkveld, L. E., Ostrem, J. L., Molinari, A. L., … Charles, D. (2018). Effects of deep brain stimulation on rest tremor progression in early stage Parkinson disease . Neurology , 91 (5). doi: 10.1212/wnl.0000000000005903 Have you heard about Duopa® (carbidopa and levodopa)? (n.d.). Retrieved from Hickey, P., & Stacy, M. (2016). Deep Brain Stimulation: A Paradigm Shifting Approach to Treat Parkinsons Disease. Frontiers in Neuroscience, 10. doi: 10.3389/fnins.2016.00173 Inacio, P. (2019, February 1). In Parkinson’s, Deep Brain Stimulation May Raise Dementia Risk, Study Says. Retrieved from Learn more about INBRIJA. (n.d.). Retrieved from Lees, A.J. (2002). Drugs for Parkinson’s disease . Journal of Neurology, Neurosurgery & Psychiatry, 73, 607-610. Lopes, J. M. (2019, January 15). Parkinson’s Therapy Inbrija Approved in US for Treatment of Off Periods. Retrieved from Lotan, I., Treves, T. A., Roditi, Y., & Djaldetti, R. (2014). Cannabis (Medical Marijuana) Treatment for Motor and Non–Motor Symptoms of Parkinson Disease . Clinical Neuropharmacology, 37 (2), 41–44. doi: 10.1097/wnf.0000000000000016 LSVT BIG. (n.d.). Retrieved from Luca, C. (2019, April 23). [Telephone interview]. Mcdonnell, M. N., Rischbieth, B., Schammer, T. T., Seaforth, C., Shaw, A. J., & Phillips, A. C. (2017). Lee Silverman Voice Treatment (LSVT)-BIG to improve motor function in people with Parkinson’s disease: a systematic review and meta-analysis. Clinical Rehabilitation, 32 (5), 607–618. doi: 10.1177/0269215517734385 McKeown, M. (2019, May 6). [Telephone interview]. Northera. (n.d.) Retrieved from Oliveira de Carvalho, A., Filho, A., Murillo-Rodriguez, E., Rocha, N. B., Carta, M. G., & Machado, S. (2018). Physical Exercise For Parkinson’s Disease: Clinical And Experimental Evidence . Clinical Practice and Epidemiology in Mental Health:CP & EMH, 14, 89–98. doi:10.2174/1745017901814010089 Ovallath, S., & Sulthana, B. (2017). Levodopa: History and Therapeutic Applications . Annals of Indian Academy of Neurology , 20 (3), 185–189. doi: 10.4103/aian.AIAN_241_17 Percutaneous Endoscopic Gastrostomy (PEG) Procedure Details. (n.d.). Retrieved from Pickut, B., Vanneste, S., Hirsch, M. A., Hecke, W. V., Kerckhofs, E., Mariën, P., … Cras, P. (2015). Mindfulness Training among Individuals with Parkinson’s Disease: Neurobehavioral Effects . Parkinsons Disease, 2015, 1–6. doi: 10.1155/2015/816404 Quinn, J. (2019, May 7). [Telephone interview]. Riederer, P., & Laux, G. (2011). MAO-inhibitors in Parkinsons Disease . Experimental Neurobiology, 20 (1), 1–17. doi: 10.5607/en.2011.20.1.1 Robb, K. (2019, May 5). [E-mail interview]. Rock Steady Boxing. (n.d.). Retrieved from . Tagliati, M. (2019, April 25). [Telephone interview]. Virhammar, J., & Nyholm, D. (2016). Levodopa-carbidopa enteral suspension in advanced Parkinson’s disease: clinical evidence and experience. Therapeutic Advances in Neurological Disorders , 10 (3), 171–187. doi: 10.1177/1756285616681280 Yang, L. (2019, May 3). [Telephone interview]. Zuardi, A. W., Crippa, J. A., Hallak, J. E., Pinto, J. P., Chagas, M. H., Rodrigues, G. G., … Tumas, V. (2009). Cannabidiol for the treatment of psychosis in Parkinson’s disease . Journal of Psychopharmacology, 23 (8), 979–983. doi: 10.1177/0269881108096519

Parkinson's Condition Guide: What Is Parkinson's Disease

Other sections of this Condition Guide: Symptoms    |    Diagnosis    |    Treatment    |    Resources What you’ll find in this section: What Is Parkinson’s Disease?   | What Causes Parkinson’s Disease? | Who Gets Parkinson’s Disease? | Why Do People Get Parkinson’s Disease? | Is Parkinson’s Disease Hereditary? | Celebrities With Parkinson’s Disease | Long-Term Outlook of Parkinson’s Disease   |   Parkinson’s Disease Statistics This section was medically reviewed by Kristin Andruska, MD, PhD, Head of the California Movement Disorders Center What Is Parkinson’s Disease? Parkinson’s disease is a progressive neurological disorder that affects your body’s ability to produce dopamine, a chemical found in your brain that helps you initiate and control your movements. This causes symptoms like uncontrollable shaking in your limbs (known as a tremor), slow movement, a rigid, stiff feeling in your body, unsteady gait and posture, as well as symptoms unrelated to movement like loss of smell, constipation, difficulty sleeping, fatigue, cognitive challenges and blood pressure issues. Parkinson’s most frequently develops in people over age 50, but can also appear in younger individuals, too. You might feel stiff, like it’s hard to move your muscles, and maybe you have uncontrollable shaking in one or more of your limbs or fingers. You might also feel fatigued and have difficulty feeling motivated to get up. Everyday tasks like brushing your teeth, putting on your clothes, cooking and driving a car might be a struggle due to the stiffness and slowness of your muscles. Perhaps family members have noticed you don’t swing one of your arms when you walk. Feeling unsteady when you walk and feeling like you can’t move as quickly as you want could be everyday occurrences along with other challenges like constipation, chronic pain, difficulty sleeping and concentrating, a weak sense of smell, having a soft voice and a bent-over posture. Taking certain medications helps wake your muscles up and gets you moving with more ease and less sluggishness. Without that help, though (and, sometimes despite taking medications), moving the way you used to is challenging, as you constantly feel a sense of slowness, stiffness and/or shaking (you might experience some or all of these symptoms). If this describes your experience, you may be living with Parkinson’s disease. When people think of Parkinson’s disease, the first (and often only) thing that comes to mind is its most well-known symptom: a tremor in your hand. But as anyone who has Parkinson’s disease knows, there’s so much more to the condition than that. This is a condition that can cause both invisible and visible symptoms, physical and emotional impacts. It affects each person in a unique way. Two people can have two completely different experiences — and both are completely valid. What Causes Parkinson’s Disease? Parkinson’s disease occurs when there isn’t enough dopamine produced in the part of the brain called the substantia nigra, which helps you initiate muscle movement. The substantia nigra part of your midbrain normally produces dopamine, a chemical called a neurotransmitter that signals other brain cells to start movement. But in Parkinson’s disease, the brain cells (aka neurons) that produce dopamine degenerate and die, meaning less and less dopamine is produced. Without dopamine in the substantia nigra, you have a harder time initiating and controlling your movements. Another key feature of Parkinson’s disease is when a protein found in the brain called alpha-synuclein (abbreviated a-synuclein) clumps together with other proteins to form Lewy bodies. Lewy bodies are toxic, and can form in many areas of the brain, including the substantia nigra and cerebral cortex (the “thinking” part of the brain). Lewy bodies disrupt the functioning of these areas of the brain — neurons can’t work properly and send the signals they are supposed to. The neurons eventually die, making it impossible for them to carry out their intended functions. 25 As a result, Parkinson’s disease is characterized by three hallmark movement, or motor, symptoms: Tremor, or uncontrolled shaking of typically a hand, leg, foot, head, chin, lips, jaw or tongue while the limb is at rest Bradykinesia, or slowness of movement Rigidity, or stiffness in the body Other common motor symptoms include an unsteady gait, balance problems, soft voice, small handwriting, stooped posture, “freezing” of feet and lower limbs while walking, and taking very small steps. Parkinson’s disease also causes symptoms unrelated to movement. Dopamine-producing neurons are found in parts of the brain besides the substantia nigra such as areas that control your mood and sense of motivation to do things. Lewy bodies can also be found in parts of the brain that affect things like your sense of smell, thinking, constipation, sleep, and depression, which causes symptoms in these areas, too. Non-motor symptoms can be just as challenging to live with as motor symptoms, sometimes more. These symptoms often show up months or even years before the motor symptoms, suggesting perhaps the disease can begin in parts of the brain outside the dopamine-producing neurons of the substantia nigra, cause non-motor symptoms and gradually progress to include the motor symptoms as well. 28 Some of the non-motor symptoms you experience can include: Loss of smell Constipation Sexual dysfunction Anxiety Depression Apathy, or the lack of desire to move or do things Sleep problems Cognitive problems Fatigue Sweating Autonomic dysfunction, or trouble with automatic body functions like blood pressure fluctuations, dizziness or feeling faint Parkinson’s disease is degenerative, which means over time, symptoms get worse. There is no cure. However, it is not considered a terminal illness. There are a number of treatments that can help you manage your symptoms, including: Medication Exercise Physical, occupational and speech therapy Surgery Parkinson’s disease is named after James Parkinson, an English scientist who wrote the first paper describing its symptoms. His paper, “An Essay on the Shaking Palsy,” was published in 1817. 24 Who Gets Parkinson’s Disease? An estimated 6.1 million people worldwide had Parkinson’s disease in 2016, up from 2.5 million people in 1990. Between 2005 to 2030, the number of people with Parkinson’s disease is expected to double. 9 This is because people, in general, are living longer, and Parkinson’s becomes more common as you get older. Age of Onset Age is the biggest risk factor for Parkinson’s disease. It affects about 1% of the population over age 60, and 5% over age 85. 26 Your risk of developing Parkinson’s increases with each decade. However, anywhere from 5-20% (research is inconsistent) of cases are considered early-onset, which is defined as presenting with symptoms before age 50. 36 We don’t know for sure why Parkinson’s becomes more common with age but research suggests some people experience a decline over time in the processes required for the functioning of the substantia nigra. As some people age, they become less able to produce dopamine, neurons become less effective and toxic Lewy bodies develop that cause neurons to die. When all these factors combine, some people experience the symptoms of Parkinson’s disease. 26 Gender Differences Parkinson’s is more common in men than women, with a ratio of about 1.5 men to every 1 woman. The ratio appears to increase with age. 17 Why more men are diagnosed with Parkinson’s than women is not completely clear. There may be a relationship between dopamine and estrogen, the female sex hormone. Some research suggests estrogen might help protect against the loss of dopamine, which could explain why women are less likely to have Parkinson’s and also why Parkinson’s symptoms are sometimes worse for women after menopause, when estrogen levels decrease. 32 There is also evidence that women with Parkinson’s are less likely than men to seek out a specialist for care, which means they may be underrepresented in research and not receive the same quality of care. 35 Another theory is male-dominated industries are associated with environmental factors that may increase Parkinson’s risk — for example, being exposed to pesticides and heavy metals (such as manganese exposure from welding, iron, steel and mining 2). It also could be that women are simply not diagnosed with Parkinson’s as readily as men are. Women may experience more non-motor symptoms, which can be harder to diagnose as Parkinson’s than motor symptoms because they still aren’t as recognized. 10 Related: These stories shares women’s perspectives on living with Parkinson’s. Is There Anything Good About Living With Parkinson’s? These Women Say Yes! Choosing Parenthood With Juvenile Parkinson’s Disease Why Do People Get Parkinson’s Disease? The first thing you might ask after getting the diagnosis is why did I get Parkinson’s disease? Scientists don’t know for sure what causes some people to develop Parkinson’s while others don’t. If you ask your doctor why you have Parkinson’s, they will likely not be able to give you a definitive answer. But scientists have pinpointed a couple of factors that may increase your risk of Parkinson’s: genetics and environmental factors. Is Parkinson’s Disease Hereditary? Historically, Parkinson’s was not thought of as a hereditary or genetic condition. Newer research, however, indicates Parkinson’s disease can run in families, though it is rare. These cases are called familial Parkinson’s disease and account for about 15% of all Parkinson’s cases. 23 Scientists have identified several genes that can cause or increase your risk of Parkinson’s. It’s possible for mutations or changes in these genes to be passed down among family members. In very rare cases, they can appear at random, causing Parkinson’s disease in someone who did not inherit the gene from a family member and has no family history of the condition. Genetic Factors Several genes increase your risk of developing Parkinson’s. Experts believe a gene called LRRK2 is linked to Parkinson’s because studies have found several types of mutations in LRRK2 that people with Parkinson’s disease have in common. It may explain at least 5% of familial Parkinson’s disease cases and 1-2% of “sporadic,” or non-familial, Parkinson’s cases. 27 The LRRK2 gene makes a protein called LRRK2 (also called dardarin), found in the brain, which is believed to be involved in several functions, including regulating other proteins’ abilities to interact with each other, transmit signals and build the framework of other cells. We don’t know exactly why LRRK2 mutations lead to Parkinson’s symptoms specifically, but we know that mutations to LRRK2 result in the protein being hyperactive, which disrupts how effectively it can work and can cause brain cells to die. 27 One particular type of LRRK2 mutation, called G2019S, appears to be particularly concentrated in certain ethnic groups. It accounts for: 13.3% of sporadic and 29.7% of familial Parkinson’s disease among Ashkenazi Jews 40.8% of sporadic and 37% of familial Parkinson’s disease among North African Arabs 12 A gene called GBA is also associated with Parkinson’s — an estimated 10% of people with Parkinson’s have a GBA mutation. 13 The GBA gene makes an enzyme — a type of protein that helps brain chemicals communicate more efficiently — that breaks down toxic substances in neurons, digests bacteria and breaks down worn-out cells. Scientists don’t know the exact connection to Parkinson’s, but in theory, if there is a mutation on GBA, toxic substances in neurons may not be able to break down, which could kill dopamine-producing neurons. 8 Another gene, called PRKN, is associated with developing early-onset Parkinson’s in particular. The PRKN gene is responsible for the production of the parkin protein, which is believed to help get rid of damaged cell parts, like mitochondria — the part of the cell that produces energy. 22 PRKN gene changes may allow a buildup of toxic proteins and damaged mitochondria, which causes the death of dopamine-producing cells. 31 Also, damaged mitochondria in dopamine-producing cells could prevent them from working properly since they can’t produce energy. 21 Some studies have found that PRKN mutations are found in 40-50% of early-onset familial Parkinson’s cases and 1-20% of sporadic Parkinson’s cases. 20 Hispanic individuals are more likely than non-Hispanic individuals to carry this gene. 1 Mutations in the SNCA gene are also believed to increase your risk of developing Parkinson’s disease since SNCA produces a-synuclein, the protein that builds up in people with Parkinson’s. 20 A-synuclein clumps are also called Lewy bodies, and the presence of Lewy bodies in the brain is a hallmark sign of Parkinson’s disease. Lewy bodies in the brain can disrupt the functioning of neurons, leading to Parkinson’s symptoms. Environmental Factors There is some evidence that certain external factors could increase your risk of developing Parkinson’s disease. One of these factors is exposure to pesticides. One study found people exposed to pesticides rotenone and paraquat were 2.5 times more likely to develop Parkinson’s. 33 Rotenone is a chemical used mostly by organic farmers to kill insects (it’s considered organic because it is found naturally in some plants), and it is also used in some household insecticide products; for example, products with the brand name Bonide. It’s also used by fishermen to kill non-native fish species. 29 Paraquat is used as a commercial herbicide, to kill weeds and grass. It can only be used by people who have a license to do so. 3 Genetics may influence the impact pesticide exposure has on your Parkinson’s risk. 11 For example, if you have a gene that does not produce the enzyme supposed to protect against the toxic effects of the pesticide paraquat, your body will be more sensitive to paraquat exposure, leading to a higher risk of Parkinson’s disease. 11 Pesticides may also explain why Parkinson’s is more common among men since pesticides are used more often in male-dominated farming industries. 10 Another potential environmental factor is smoking. Studies show smokers have a lower incidence of Parkinson’s than non-smokers, possibly because nicotine protects dopamine neurons. 19 Unfortunately, this may not be a useful protective factor, since smoking can lead to serious health problems like cancer and heart disease. Caffeine may also have a protective effect against Parkinson’s disease. 14 Head injuries may also increase your risk of Parkinson’s. Research suggests head trauma is associated with the formation of abnormal clumps of the protein a-synuclein, called Lewy bodies. Lewy bodies are toxic to brain cells and are found in the brains of people with Parkinson’s disease 4 (however, they are also found in people with other neurodegenerative diseases and in people with normal brains). Other theories are that head trauma simply “uncovers” underlying Parkinson’s disease that would have surfaced anyway, or that trauma damages dopamine-producing brain cells. 5 One recent study of military veterans found having a mild traumatic brain injury increased their risk of developing Parkinson’s by 56%. 7 Celebrities With Parkinson’s Disease When you’re living with Parkinson’s, it can be comforting to know of other people who are going through the same diagnosis you are. Celebrities who have Parkinson’s are also often active in advocacy work, which may offer great opportunities for you and your loved ones to get involved. In addition, celebrities tend to increase awareness of Parkinson’s disease, helping the general public, who may know very little about it, learn what the condition is. A few notable people with Parkinson’s disease are: Michael J. Fox Actor Michael J. Fox, best known for his appearances in “Back to the Future,” “Family Ties,” “Spin City” and “The Good Wife,” was diagnosed with Parkinson’s disease in 1991 at age 29. He publicly announced his diagnosis in 1998, and soon after founded the Michael J. Fox Foundation, a nonprofit dedicated to funding Parkinson’s research. 16 Alan Alda Alan Alda is an actor best known for his appearances in “M*A*S*H,” “The West Wing” and in movies like “The Aviator” and “Bridge of Spies.” In 2018 at age 82, Alda revealed he had been diagnosed with Parkinson’s disease three-and-a-half years earlier, after he noticed he had begun to act out dreams, a common indicator of Parkinson’s disease. 18 Muhammed Ali Boxer Muhammed Ali was diagnosed with Parkinson’s in 1984 at age 42. He became an advocate for Parkinson’s research and even founded an annual Celebrity Fight Night to raise money, along with the Muhammed Ali Parkinson Center in Phoenix, Arizona. 15 He died in 2016 at age 74 of sepsis, which is not typically linked with Parkinson’s but could have been exacerbated by his physical condition. 34 Rev. Jesse Jackson Civil rights activist Rev. Jesse Jackson announced he was diagnosed with Parkinson’s in 2016 at age 76. At the time of his diagnosis, he said he and his family had begun noticing “changes” three years earlier, and said he intended to make lifestyle changes and dedicate himself to physical therapy. 30 His father also had Parkinson’s disease. Neil Diamond Neil Diamond, best known for songs like “Sweet Caroline” and “America,” revealed his Parkinson’s diagnosis in 2018 at age 76. He stopped touring but says he hopes to continue performing. When he announced his diagnosis, he said he is feeling good, staying active and taking his medications. He said he is feeling “very positive” about it and wants to keep the music coming. 6 Related: Discover more celebrities who live with Parkinson’s. 9 Celebrities Who’ve Been Diagnosed With Parkinson’s Disease BBC Correspondent Shares Diagnosis After Viewers Notice Symptoms During Broadcast Long-Term Outlook of Parkinson’s Disease The long-term outlook of Parkinson’s has improved since James Parkinson’s essay was published. From a medication standpoint, there are several drugs you can try, including one considered the gold standard since the 1960s. These drugs can improve your motor symptoms. Deep brain stimulation surgery is also an effective treatment option for motor symptoms. Doctors are also becoming more aware of Parkinson’s non-motor symptoms and can work with you to find appropriate medications and treatments to manage these symptoms. Other types of treatments, most importantly exercise, can also help lessen your motor symptoms. Parkinson’s disease is progressive, so symptoms get worse over time. However, the rate of progression varies significantly among people with Parkinson’s, so it’s difficult for any guide such as this one to predict how quickly you will progress and whether you will need mobility devices or caregivers. But the rate of progression for a single person tends to remain stable and predictable throughout your life, so your own doctor may be able to give you some insight. Still, Parkinson’s is not considered a terminal illness. Rather, there are a few symptoms that can lead to life-threatening complications like pneumonia, loss of balance that can lead to serious falls, and Parkinson’s dementia. Rather than try to predict how quickly you will progress and worry about the future, it’s more productive to focus on managing your symptoms and lifestyle as well as you can right now. Related: These stories share more about what it’s like living with Parkinson’s disease. What You Can’t Always See About Living With Parkinson’s Disease Michael J. Fox Reveals What’s So Difficult About Having ‘False Hope’ With Chronic Illness 12 Things You Don’t Understand About Parkinson’s Unless You Have It Parkinson’s Disease Statistics Check out these facts and figures for a quick look at the scope, causes and demographics of Parkinson’s disease. The average age at diagnosis is 60 years old. 16 About 6.1 million people worldwide are diagnosed with Parkinson’s disease. 9 About 1 million people in the United States have Parkinson’s disease. 9 15% of Parkinson’s cases are caused by genetics. 23 The ratio of men with Parkinson’s to women with Parkinson’s is 1.5 to 1. An estimated 5-20% of Parkinson’s cases are considered early-onset, which is when symptoms present at age 50 or younger. 23 Learn More About Parkinson’s Disease:  Overview | Symptoms | Diagnosis | Treatment | Resources Sources Alcalay, R. N. et al. (2010). Frequency of Known Mutations in Early-Onset Parkinson Disease . Archives of Neurology, 67(9), 1116-1122. doi:10.1001/archneurol.2010.194 Andruska, K. M., & Racette, B. A. (2015). Neuromythology of Manganism. Current Epidemiology Reports,(2), 143–148. doi: 10.1007/s40471-015-0040-x CDC | Facts about Paraquat. (n.d.). Retrieved June 28, 2019, from Crane, P. K., Gibbons, L. E., Dams-O’Connor, K., Trittschuh, E., Leverenz, J. B., Keene, C. D., . . . Larson, E. B. (2016). Association of Traumatic Brain Injury With Late-Life Neurodegenerative Conditions and Neuropathologic Findings . JAMA Neurology, 73(9), 1062-1069. doi:10.1001/jamaneurol.2016.1948 Dolhun, R. (n.d.). Ask the MD: Head Trauma and Parkinson’s Disease. Retrieved from Fekadu, M. (2018, August 15). Diamond won’t let Parkinson’s slow him down, talks new DVD. Retrieved from Gardner, R. C., Byers, A. L., Barnes, D. E., Li, Y., Boscardin, J., & Yaffe, K. (2018). Mild TBI and risk of Parkinson disease . Neurology, 90(20). doi:10.1212/wnl.0000000000005522 GBA gene – Genetics Home Reference – NIH. (n.d.). Retrieved July 3, 2019, from GBD 2016 Parkinson’s Disease Collaborators. (2018). Global, regional, and national burden of Parkinson’s disease, 1990–2016: A systematic analysis for the Global Burden of Disease Study 2016 . Lancet Neurology, 939-953. doi: Goldman, J. (2019, May 3). [Telephone interview]. Goldman, S. M., Kamel, F., Ross, G. W., Bhudhikanok, G. S., Hoppin, J. A., Korell, M., . . . Tanner, C. M. (2012). Genetic modification of the association of paraquat and Parkinson’s disease. Movement Disorders, 27(13), 1652-1658. doi:10.1002/mds.25216 Kumari, U., & Tan, E. K. (2009). LRRK2 in Parkinson’s disease: Genetic and clinical studies from patients. FEBS Journal, 276(22), 6455-6463. doi:10.1111/j.1742-4658.2009.07344.x Liu, G., Boot, B., Locascio, J. J., Jansen, I. E., Winder-Rhodes, S., Eberly, S., . . . Scherzer, C. R. (2016). Specifically neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s. Annals of Neurology, 80(5), 674-685. doi: Liu, R., Guo, X., Park, Y., Huang, X., Sinha, R., Freedman, N. D., . . . Chen, H. (2012). Caffeine Intake, Smoking, and Risk of Parkinson Disease in Men and Women. American Journal of Epidemiology, 175(11), 1200-1207. doi:10.1093/aje/kwr451 McCallum, K. (2016, June 10). Muhammad Ali’s Advocacy for Parkinson’s Disease Endures with Boxing Legacy. Retrieved from The Michael J. Fox Foundation. (n.d.). Retrieved June 14, 2019, from Moisan, F., Kab, S., Mohamed, F., Canonico, M., Guern, M. L., Quintin, C., . . . Elbaz, A. (2015). Parkinson disease male-to-female ratios increase with age: French nationwide study and meta-analysis. Journal of Neurology, Neurosurgery & Psychiatry, 87(9), 952-957. doi:10.1136/jnnp-2015-312283 Moniuszko, S. M. (2018, July 31). Alan Alda reveals he has Parkinson’s disease, was diagnosed more than 3 years ago. Retrieved from National Institute of Environmental Health Sciences. (n.d.). Parkinson’s Disease and Environmental Factors. Retrieved from Oczkowska, A., Kozubski, W., Lianeri, M., & Dorszewska, J. (2013). Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson’s Disease. Current Genomics, 14(8), 502-517. doi:10.2174/1389202914666131210205839 PRKN gene – Genetics Home Reference – NIH. (n.d.). Retrieved July 2, 2019, from PARKIN; PARK2. (n.d.). Retrieved July 2, 2019, from Parkinson disease – Genetics Home Reference – NIH. (n.d.). Retrieved May 23, 2019, from Parkinson, J. (2002). An Essay on the Shaking Palsy. Journal of Neuropsychiatry, 14(2), 223-236. doi:10.1176/appi.neuropsych.14.2.223 (Reprinted from Sherwood, Neely and Jones, 1817, London) Poewe, W., Seppi, K., Tanner, C. M., Halliday, G. M., Brundin, P., Volkmann, J., . . . Lang, A. E. (2017). Parkinson disease. Nature Reviews Disease Primers, 3(1). doi:10.1038/nrdp.2017.14 Reeve, A., Simcox, E., & Turnbull, D. (2014). Ageing and Parkinsons disease: Why is advancing age the biggest risk factor? Ageing Research Reviews, 14, 19-30. doi:10.1016/j.arr.2014.01.004 Refai, F. S., Ng, S. H., & Tan, E. (2015). EvaluatingLRRK2Genetic Variants with Unclear Pathogenicity. BioMed Research International, 2015, 1-6. doi:10.1155/2015/678701 Rietdijk, C. D., Perez-Pardo, P., Garssen, J., Van Wezel, R. J., & Kraneveld, A. D. (2017). Exploring Braak’s Hypothesis of Parkinson’s Disease [Review]. Frontiers in Neurology. Retrieved July 3, 2019, from Robertson, D. R., & Smith-Vaniz, W. F. (2008). Rotenone: An Essential but Demonized Tool for Assessing Marine Fish Diversity. BioScience, 58(2), 165-170. doi:10.1641/b580211 Scutti, S. (2017, November 17). Jesse Jackson diagnosed with Parkinson’s. Retrieved from Shimura, H., Mizuno, Y., & Hattori, N. (2012). Parkin and Parkinson Disease. Clinical Chemistry, 58(8), 1260-1261. doi:10.1373/clinchem.2012.187054 Shulman, L. M. (2002). Is there a connection between estrogen and Parkinsons disease? Parkinsonism & Related Disorders, 8(5), 289-295. doi:10.1016/s1353-8020(02)00014-7 Tanner, C., Kamel, F., Ross, G. W., Hoppin, J. A., Goldman, S. M., Korell, M., . . . Langston, J. W. (2011). Rotenone, paraquat, and Parkinson’s disease. Environmental Health Perspectives, 119(6), 866-872. doi:10.1289/ehp.1002839 Tinker, B. (2016, June 09). What killed Muhammad Ali? Retrieved from Willis, A. W., Schootman, M., Evanoff, B. A., Perlmutter, J. S., & Racette, B. A. (2011). Neurologist care in Parkinson disease: A utilization, outcomes, and survival study. Neurology, 77(9), 851–857. doi: 10.1212/wnl.0b013e31822c9123 Young-Onset Parkinson’s Disease. (n.d.). Retrieved June 27, 2019, from ns-disease

Fibromyalgia Guide: Related Conditions

Learn More About Fibromyalgia: Overview | Symptoms | Diagnosis | Treatment | Resources Autoimmune Conditions | Digestive Conditions | Pain-Related Conditions | Genetic Conditions | Other Conditions | Mental Health Conditions What Other Conditions Could You Have With Fibromyalgia? Fibromyalgia often occurs at the same time as other chronic illnesses, and it’s important to treat as many of these as possible. 4 This will improve your overall health and reduce other conditions that aggravate fibromyalgia symptoms. Common comorbid conditions include autoimmune disorders, other pain-related conditions, Lyme disease, irritable bowel syndrome (IBS), Crohn’s disease, ulcerative colitis, genetic conditions like Ehlers-Danlos syndrome, mental health conditions and more. Autoimmune Conditions Before doctors really started to understand fibromyalgia, they thought it was an autoimmune condition, which are caused when your immune system gets confused and attacks healthy cells in your body. Instead of producing antibodies to protect your system, your immune system creates autoantibodies that attack healthy tissues and cause problems. 22 After more research, doctors found fibro isn’t caused by a wonky immune system, even though your immune system is involved in some capacity. However, many people do have an overlapping autoimmune condition in addition to fibromyalgia, including lupus and rheumatoid arthritis. Sometimes the symptoms can look similar. Lupus Lupus is an autoimmune condition that can impact any part of your body, including your skin, joints or organs. 22 The condition can “imitate” other chronic illnesses because many of the symptoms overlap — fatigue, joint pain and swelling, sensitivity to light, rashes on your face, and your fingers turning white or blue when they’re cold. Like fibromyalgia, there isn’t a single test that can diagnose lupus, so your doctor will likely rely on your medical history, a series of blood tests to see what your immune system might be up to and other medical tests. Rheumatoid Arthritis Considered the most common autoimmune arthritis condition, rheumatoid arthritis (RA) leads to pain and swelling in the small joints in your wrists, hands and feet. 5 Usually the stiffness in your joints will be most apparent in the morning. You might also have other symptoms like a low-grade fever, lack of energy or loss of appetite. RA is typically diagnosed using a combination of blood tests, X-rays and ultrasound images along with a physical exam and medical history. Sjögren’s Syndrome Sjögren’s syndrome is an autoimmune condition that you’re likely to have along with another autoimmune condition like rheumatoid arthritis. 18 It’s also common among people with fibromyalgia. The main symptoms of Sjögren’s include dry or burning eyes or a dry mouth because it most commonly affects your tear and saliva glands. When Sjögren’s syndrome occurs with another rheumatologic condition (like lupus, rheumatoid arthritis or fibromyalgia) it’s referred to as “secondary” Sjögren’s syndrome. Digestive Conditions Though one of the biggest fibromyalgia symptoms is pain, the condition can also affect your digestive system. Your autonomic nervous system — the part of your body responsible for regulating automatic bodily functions — controls your digestive system. When you’re in fight-or-flight mode, your sympathetic nervous system redirects energy partly by putting a pause on digestion. Normally once your system gets out of danger mode, your parasympathetic nervous system would take over and digestion goes back to normal. However, this process gets interrupted often when you have fibromyalgia. As a result, you may experience a variety of digestive conditions sometimes referred to by doctors as “somatic dysfunction.” GERD (Acid Reflux) Gastroesophageal reflux disease (GERD or acid reflux) happens when acids or other contents in your stomach travel back out and up into your esophagus. 9 This causes a burning feeling in your chest area. It’s the sensation of heartburn, but you may also experience asthma, nausea, a sore throat or vomiting, especially when it’s chronic. It can often be treated with over-the-counter medications or prescriptions from your doctor. Irritable Bowel Syndrome (IBS) Irritable bowel syndrome (IBS) is about what you’d expect based on the name — disruptions in your digestive process that can cause an upset stomach, constipation and diarrhea. 3 The exact cause of IBS isn’t well understood and typically a doctor makes a diagnosis based on a review of your medical history and symptoms. IBS changes the way the muscles in your colon contract and doesn’t lead to damage in your digestive tract, which is what distinguishes it from inflammatory bowel disease. 23 Crohn’s Disease Crohn’s disease is a type of inflammatory bowel disease (IBD) that causes symptoms like digestive pain, bleeding, diarrhea, constipation and seemingly unrelated symptoms like fever, weight loss or fatigue 21 Crohn’s occurs when your immune system mistakenly attacks safe bacteria in your gastrointestinal tract (GI tract) and causes damage. With Crohn’s the area of your GI tract typically most affected is your ileum, the end of your small intestine. The beginning of your colon may also be involved, and additional damage can occur anywhere along your GI tract. 21 The condition can flare and enter remission, but you may still experience symptoms even when you are technically in remission. Ulcerative Colitis Like Crohn’s, ulcerative colitis is an inflammatory bowel disease (IBD) where your immune system attacks non-harmful cells and food in your digestive system. This leads to chronic inflammation that causes damage in your colon, specifically ulcerations in the lining of your colon. 23 If you have ulcerative colitis, you might experience diarrhea, blood in your stool, crampy abdominal pain and low energy or fatigue. You may have periods with almost no sign of the condition and then have a flare when all the symptoms come back. Pain-Related Conditions Fibromyalgia and pain are closely related, so you’re probably not surprised to learn other pain conditions can be both a symptom of fibromyalgia or a separate condition. This could include migraine, myofascial pain syndrome or temporomandibular joint dysfunction (TMJ), which are fairly common when you have fibro. Migraine Migraine is technically defined as having at least five “unprovoked” headaches that last four to 72 hours each in your lifetime that are severe enough you can’t do your usual routine. 15 The classic symptoms include nausea and sensitivity to light or sound. If you live with migraine, you likely know this definition is a little narrow. Some people with chronic migraine will have many each month and mild or moderate migraines can sometimes last for days. It’s believed migraine is the result of extra sensitivity in the neurons in your nervous system. 15 These neurons can be triggered by external changes like the temperature or internal changes like a hormone level drop, which then results in migraine. You may also experience migraine with aura, which occurs for about 20 to 25 percent of those who have migraine, though not necessarily each time. 15 Aura typically happens before a migraine attack and includes sensory disturbances like seeing sparks, dots or jagged lines to tingling on one side of the body or difficulty speaking clearly, which is called transient aphasia. 19 It’s also possible to have only aura symptoms or a migraine without pain. 15 Myofascial Pain Syndrome Fibromyalgia and myofascial pain syndrome can appear to be very similar. 14 It’s also possible to have both at the same time. However, the subtle difference between the two is tender points (fibromyalgia) and trigger points (myofascial pain syndrome), though you’ll hear both terms used interchangeably. When you have fibro, you feel pain in tender areas on your body at tender points. 14 With myofascial pain syndrome, you may feel pain in similar areas in your muscles, but those pain points are actually a trigger — pain at the trigger site also sets off pain at other points in your body because of bands along your muscle fibers. Myofascial pain syndrome also causes stiffness, muscle weakness and limited range of motion. Temporomandibular Joint Dysfunction (TMJ) Temporomandibular joint dysfunction (TMJ) is a general category of issues you may have with the joints that hinge your jaw, which are right in front of your ears. 16 Some of the most common symptoms include facial pain, jaw pain or stiffness and earaches. TMJ can also cause ringing in your ears, also called tinnitus. 17 Keep in mind tinnitus can be its own condition, typically associated with hearing loss, or a symptom of TMJ. Genetic Conditions If you live with another genetic condition, like Ehlers-Danlos syndrome or a mitochondrial disease or disorder, you may also be diagnosed with fibromyalgia. Sometimes it can be tricky to tell these conditions apart because many of your symptoms could overlap. Often genetic conditions can be diagnosed with testing, unlike fibro, which does not have a definitive test yet. Ehlers-Danlos Syndrome (EDS) Ehlers-Danlos syndrome is a genetic condition that affects the connective tissue in your body. It impacts your collagen genes, a type of protein that makes up connective tissue, which is all over your body, including your skin, ligaments and even your bones. 20 There are 13 different types of Ehlers-Danlos syndrome, but the most common type is hypermobile Ehlers-Danlos syndrome (hEDS). Hypermobile EDS causes you to have loose or flexible joints that dislocate easy and stretchy skin, along with other symptoms that can cause chronic pain like fibromyalgia. Mitochondrial Disease/Disorder Mitochondrial disease (or disorder) is a genetic condition that impacts the mitochondria in your cells — the part of your cells that generate energy. If you have this condition, you might experience feeling sensations similar to fibromyalgia like muscle pain, weakness, difficulty thinking and other cognitive difficulty, digestive issues and seizures. Mitochondrial disease is progressive and difficult to diagnose and treat. 1 Other Conditions Those who live with fibromyalgia also report a variety of other chronic illnesses, such as chronic fatigue syndrome, Lyme disease or hypothyroidism that have many of the same pain symptoms as fibromyalgia. Some of them are also difficult to diagnose and it may take time for you and your doctor to accurately determine which conditions you are experiencing. Hypothyroidism Hypothyroidism is one condition your doctor will want to rule out before making a fibromyalgia diagnosis because it can look so similar to fibro. When your thyroid is hypo-active, it isn’t producing enough hormones, which slows down your whole system. 12 This leads to symptoms like fatigue, feeling colder than usual, being forgetful, feeling depressed and other symptoms. Hypothyroidism can be diagnosed with a regular blood test. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is almost like a cousin condition to fibromyalgia if you’re considering the symptoms. The main signs of ME/CFS include fatigue, difficulty getting good sleep, memory issues or brain fog, and chronic pain. While fatigue is the main symptom of ME/CFS, there isn’t a test for ME/CFS, so it can be difficult to distinguish from fibromyalgia and you may find out you have both conditions based on your symptoms. 4 Lyme Disease Lyme disease is caused when you’re bitten by a tick (often a deer tick) carrying the bacteria Borrelia burgdorferi. 11 It’s a chronic illness that can cause joint, soft tissue and nerve pain, dizziness and short-term memory problems. While there are tests you can take to get a Lyme diagnosis, like the enzyme-linked immunosorbent assay (ELISA) or Western blot test, tick infections aren’t always caught right away. It’s common to have fibromyalgia as a secondary diagnosis to Lyme disease. Raynaud’s Syndrome If you’ve ever noticed your fingers turn colors, like blue or white, when it’s cold or you’re stressed, it could be a sign of Raynaud’s syndrome or phenomenon. 13 It occurs because the blood vessels in your fingers (and sometimes toes) are unusually sensitive. When they’re exposed to cold or stress, the most common triggers, the blood vessels narrow or spasm, which reduces blood flow to your fingers. You may also feel a tingling sensation along with color changes. As your fingers return to normal, they may also turn bright red as the blood flow suddenly returns. Endometriosis Endometriosis is a condition that causes tissue similar to endometrium in the uterus to grow outside the uterus, typically on other pelvic organs or tissues. 24 This can lead to significant chronic pain, especially when you have your period. You might also experience pain in your lower back, legs and shoulders, after sexual intercourse, or when urinating. 6 Endometriosis in later stages (stage III or IV) or following surgery may cause painful adhesions, bands of scar tissue that may attach to your ovaries or the side of your pelvic wall, for example. Adhesions can cause a different type of pain, sometimes described as a “stabbing” or “sickening” pain. You may also experience diarrhea, constipation, bloating, irregular or heavy periods and fatigue as a result of the condition. 6 Endometriosis can also lead to difficulty getting pregnant. Currently, the best way to make an accurate endometriosis diagnosis is through laparoscopic surgery. 24 Excision surgery of the invasive tissue is the most effective treatment, though surgery may not eliminate all of your symptoms and there is a risk of recurrence or adhesions. Mental Health Conditions Like many other chronic illnesses, it’s not uncommon you might have both fibromyalgia and a separate mental health condition. While you could have any mental health condition, such as post-traumatic stress disorder (PTSD) or bipolar disorder, an estimated 20 percent of people who live with fibro also have either an anxiety or depressive disorder, the most common among fibromyalgia patients. 7 Anxiety Disorders Anxiety can be both a symptom of fibromyalgia and a condition you might have along with fibro. Because fibromyalgia turns your fight-or-flight reaction in the nervous system into overdrive, there’s a lot of overlap between how fibro and anxiety might affect your nervous system so a connection between these two conditions might make sense. There are a variety of anxiety-based conditions. You might have generalized anxiety disorder (GAD) if you find you worry a lot and can’t tune out the worry no matter what you do. Like fibromyalgia, GAD is twice as common if you’re female. 10 Other common anxiety disorders include panic disorder, where you experience panic attacks without an apparent trigger, obsessive-compulsive disorder (OCD) or social anxiety disorder. Depression Depression symptoms, like a lack of interest in things you usually love, loss of energy, sleep issues and feelings of worthlessness or hopelessness, could be a sign of fibromyalgia or could indicate you also have major depressive disorder (generally just referred to as depression though there are other depressive diagnoses). You’re three times as likely to experience depression if you have fibromyalgia. 8 Just like with anxiety, the reason you’re more at risk for having both fibromyalgia and depression could be connected to your nervous system and how fibro affects it. 2 For example, having lower levels of serotonin or norepinephrine, mood-regulating neurotransmitters, have been linked with depression. The involvement of these same neurotransmitters has also been linked to fibromyalgia. If you are struggling with your mental health, know you are not alone. If you need support right now, call the National Suicide Prevention Lifeline at 1-800-273-8255, the Trevor Project at 1-866-488-7386 or reach the Crisis Text Line by texting “START” to 741741. Learn More About Fibromyalgia: Overview | Symptoms | Diagnosis | Treatment | Resources Sources About Mitochondrial Disease – Mito FAQ. (n.d.). Arnold, L. M. (2018, December 11). Antidepressants for fibromyalgia: Latest word on the link to depression and anxiety. Retrieved from Chang, L. (n.d.). Irritable Bowel Syndrome (IBS). Retrieved from Diagnosis of ME/CFS | Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) | CDC. (2018). Retrieved from Duarte-Garcia, MD Ali Duarte-Garcia, A. (2019, March). Rheumatoid Arthritis. Retrieved from (2011). Symptoms « Retrieved from Fibromyalgia. (n.d.). Retrieved from Fibromyalgia | Arthritis | CDC. (2017, October 11). Retrieved from Gastroesophageal Reflux Disease (GERD). (n.d.). Retrieved from Generalized Anxiety Disorder (GAD). (n.d.). Retrieved from Hypothyroidism. (n.d.). Retrieved from Lyme Disease | Lyme Disease | CDC. (2018, December 21). Retrieved from Mecoli, C. (2018, April). Raynaud’s Phenomenon. Retrieved from Myofascial Pain Syndrome. (n.d.). Retrieved from Rothrock, J. F. (n.d.). What is Migraine? Retrieved from TMJ and Facial Pain | AAOMS. (n.d.). Retrieved from TMJ Treatments. (2016, December 14). Retrieved from Udell, J. (2017, March). Sjögren’s Syndrome. Retrieved from Understanding Migraine with Aura. (n.d.). Retrieved from What are the Ehlers-Danlos Syndromes? (n.d.). Retrieved from What is Crohn’s Disease? (n.d.). Retrieved from What is lupus? (2013, July 31). Retrieved from What is Ulcerative Colitis? (n.d.). Retrieved from Zondervan, K. T., Becker, C. M., Koga, K., Missmer, S. A., Taylor, R. N., & Viganò, P. (2018). Endometriosis. Nature Reviews Disease Primers,4 (9), 1-25. doi:10.1038/ s41572-018-0008-5

Ehlers-Danlos Syndrome Guide: Ehlers-Danlos Syndrome Treatment

What Treatments Work for Ehlers-Danlos Syndrome? The best treatment for Ehlers-Danlos syndrome (EDS) will depend on your EDS subtype and your individual symptoms. While there is no cure for EDS, using a combination of therapies, medications, exercises and alternative treatment options, you can manage your symptoms. Examples of treatments that have helped others include low-impact exercise, mobility assistance devices, pain management and diet changes. Learn More About Ehlers-Danlos Syndrome: Overview | Symptoms | Diagnosis | Resources Medically reviewed by Catherine Karimov, MD, FACMG, FACOG Treatment Specialists Who Can Help | Common Treatment Options | Considering Joint Surgery | Preventing Worsening Symptoms | Treating Related Conditions | Preparing for Emergencies | Pregnancy and EDS | Living With Ehlers-Danlos Syndrome Understanding Ehlers-Danlos Syndrome: Treatment Options Though there is no cure for Ehlers-Danlos syndrome (EDS), you can manage your symptoms through a variety of therapies, medications, exercises and alternative treatment approaches. To cure EDS, scientists would have to alter the genes responsible for the condition. It’s unlikely there would be one cure for all 13 subtypes since different types affect different genes and work through different mechanisms. Gene editing is still an evolving technology and isn’t ready for study in EDS patients. Researchers and doctors are focusing on effective treatments for the collagen proteins in your body most impacted by EDS. They just haven’t found definitive answers yet. 5 In addition to directly treating EDS symptoms, your doctor will identify and treat any co-occurring illnesses such as irritable bowel syndrome (IBS) or gastroparesis so you have the best quality of life possible. In combination with preventative measures and early interventions, it’s possible to reduce the impact EDS on your day-to-day life. Treatment Specialists Who Can Help EDS can impact many systems in your body, so your treatment team will likely need to be diverse. A geneticist might provide a diagnosis and suggest management strategies for your other doctors, while your pain specialist manages your chronic joint pain. A neurologist or cardiologist might be helpful if you have postural orthostatic tachycardia syndrome (POTS) along with EDS. You might be referred to specialists for a second opinion or additional testing while others, like a nutritionist who can give you advice on diets for irritable bowel syndrome (IBS) or a physical therapist to work with you on minimizing daily activities that might injure you. When you’re searching for a doctor or a specialist, it’s helpful to ask how familiar they are with EDS. You want to see a clinician who understands the disorder and is up to date on the latest treatment options. Depending on where you live, it may be hard to find even one of these specialists. You can try connecting with other EDS patients online who live in your area to see if you can find doctors who can help. Clinical Geneticist A clinical geneticist specializes in illnesses inherited and passed through families, including EDS. They are equipped to determine what tests you need to find out what your genes say about the subtype of EDS you have as well as provide additional information for your family about conditions like EDS that are inherited. 11 In most cases, you’ll need to see a geneticist (or your doctor will order genetic testing) to get a firm EDS diagnosis and suggested medical management based on your EDS subtype. Neurologist Neurologists — most commonly associated with treating brain-related conditions — specialize in your entire nervous system. They can help treat dysautonomic conditions, which occur when your autonomic nervous system doesn’t correctly regulate body functions that are controlled without you having to think about them, like breathing, your heartbeat or blood flow. This might be migraine, neuropathy or postural orthostatic tachycardia syndrome (POTS). 6 Pain Management Clinics EDS can be painful so heading to a dedicated pain management clinic might provide some relief for chronic pain. There are two kinds of pain clinics you may find helpful. Intervention-based pain clinics specialize in pain treatments like injections and nerve blocks. A rehabilitation clinic provides a one-stop-shop for pain management with everything from medication to lifestyle changes and occupational therapy. 25 Many pain clinics also offer acupuncture. Alternative or Holistic Practitioner Alternative or holistic practitioners typically view EDS symptoms from a whole-body perspective. They use regular practices from the Western world like prescription drugs, but they also use “alternative” practices like acupuncture, mindfulness and lifestyle changes. For conditions like EDS that need a personalized treatment plan, a functional doctor may offer additional treatment choices. 18 Orthopedic Doctor Orthopedic doctors focus their practice entirely on your musculoskeletal system, including bones, muscles and joints. If you live with scoliosis, kyphoscoliosis or joint pain or dislocations, an orthopedic doctor may be able to provide in-depth treatment options to manage pain and increase mobility. They may also provide helpful suggestions to manage joint hypermobility, dislocations and pain. Ophthalmologist An ophthalmologist, not to be confused with an optometrist, has the highest level of medical training on conditions that affect your eyes, including care for vision issues that result from EDS. 1 Whether it’s vision problems or complications in your cornea as a result of EDS, an ophthalmologist should have the required training to provide effective care. Cardiologist If you have cardiovascular EDS symptoms like heart problems or artery complications, a cardiologist can make sure your treatment plan takes those symptoms into account. You may need regular heart and artery monitoring to get ahead of potentially fatal issues like a ruptured artery. 6 These doctors are also able to help manage postural orthostatic tachycardia syndrome (POTS). Gastroenterologist Gastroenterologists deal with all things gastrointestinal and digestive. Considering having EDS means you’re more likely to have a digestive tract issue, you may be referred to a gastroenterologist. 6 They can help address conditions like constipation, irritable bowel syndrome (IBS) and gastroparesis as well as monitor to prevent more serious complications like a ruptured colon. Physical Therapist One of the best treatments for joint hypermobility is regular exercise and movement. This is where a physical therapist, a practitioner who focuses on stretching and movement exercises, might come in. 14 Be sure to seek out a physical therapist who understands EDS and takes into account joint hypermobility in particular because the regular physical therapy treatments they might try can actually hurt patients with EDS. 6 Hematologist Hematologists specialize in blood and blood-related issues. Because you might bruise easily, which can be severe depending on your EDS subtype, you might be referred to a hematologist to rule out an underlying hematologic disorder. 6 Rheumatologist Rheumatologists have specialized knowledge of musculoskeletal and autoimmune diseases like rheumatoid arthritis, osteoarthritis, gout and lupus. 4 If your doctor suspects you have a condition like fibromyalgia or an autoimmune disease, a rheumatologist might be helpful to make an additional diagnosis or rule out these other illnesses. They can also provide additional care if you have EDS symptoms that affect the strength of your bones. Mental Health Professional Like other chronic illnesses, living with EDS can take a toll on your mental health and lead to depression, anxiety and other mental illnesses. 6 A psychiatrist, who will have an MD or DO license, can treat mental illness by prescribing medications. A psychologist, therapist or counselor can provide support through techniques like cognitive-behavioral therapy (CBT), talk therapy or group therapy to treat mental illness, reduce stress and teach calming techniques that can even reduce your pain levels. Common Treatment Options There is a lot of variation in the EDS symptoms you might have, even within just one subtype, let alone across all 13. The best way to find a comprehensive treatment plan is to work with your doctor or team of doctors. What this looks like will depend on your subtype and the severity of your symptoms. For symptoms that are common among many of the EDS subtypes, doctors might especially focus on increasing your muscle strength and healthy joint movement, reducing chronic pain and suggesting lifestyle changes to reduce the impact of your symptoms. Exercise and Mobility It might sound counterintuitive, but even when you have a lot of joint pain, the best thing you can do is get those joints moving. In short, staying active in some capacity conditions your muscles and makes them more resilient and stronger to support your joints. 5 Staying mobile reduces pain, dislocations and even fatigue. Exercise can stop deterioration and deconditioning or a worsening of your condition and improve the overall quality of your life, even if seems too painful to start. Some doctors estimate it’s the best exercise to include in a treatment plan because it helps many aspects of your well-being, not just your joints. 5 The exercise you’ll want to start with should be low-impact and gentle. Consider five minutes on the elliptical or gentle stretching every day to get your joints moving, working together and get some coordination going. 5 Avoid stop-and-go or repetitive activities like running on pavement, which is hard on your joints and can cause worsening symptoms. Keep in mind it may take time until you notice an improvement. It can take months of muscle toning to reverse deterioration and maybe even longer until exercise reduces your pain levels. Addressing Chronic Pain EDS is more than just flexible joints — it can be very painful and debilitating. Pain could come from your joints and dislocations or even headaches, which about a third of people with EDS experience. 10 Therefore, your treatment plan may need to include pain management through medication, physical-based therapies and even psychological methods like meditation or cognitive behavioral therapy. A comprehensive pain management program will tackle pain from various angles, even working to address your fatigue, which is a major factor in chronic pain. Medication is one component of chronic pain management. Your doctor may choose a number of different drugs. Some medications, like ibuprofen and opioids, may not be recommended if they cause worsening pain or dependency. The goal with pain management is to become more functional and then decrease pain medication needs with other therapies. You’ll also want to be careful with nerve pain medications because when you have hypermobile Ehlers-Danlos syndrome (hEDS), they can actually make your symptoms worse if not coupled with physical therapy and strategies to prevent further damage. Nerve pain medications are designed to blunt your pain response. Some people have found medications for muscle contractions helpful to reduce both pain and fatigue. Osteopathic Manipulative Treatment Practiced by doctors of osteopathic medicine (DO), osteopathic manipulative techniques are similar to what a chiropractor might do by manipulating your muscles or joints to reduce pain, but a DO has more training and is a medical doctor. 3 The therapeutic treatment takes into account your whole body and may be a helpful therapy to try. 23 Cognitive Behavioral Therapy Cognitive behavioral therapy (CBT) and biofeedback (a type of mind-body therapy that helps you learn how to control some of your body’s responses) address chronic pain through psychological techniques. A CBT approach helps you cope with chronic pain and reframe what it means to live with a chronic condition. It focuses on developing your strengths and reducing stress and tension, which has been shown to be a major cause in the headaches that can sometimes accompany EDS. 10 Mobility Assistance and Other Aids To help stabilize your joints, a variety of mobility aids can make a big difference. Splints and braces might add stability to your joints so you can get on with everyday tasks. 23 These can be custom designed to fit any part of your body. Wheelchairs, walkers and canes assist with mobility as needed. Compression clothing increases circulation and keeps joints in place while supportive shoe brands reduce the impact of uneven pavement and promote ankle stability. 26 A variety of other aids, like pillows, athletic tape and cooling and heating products also provide a little extra comfort. Alternative Medicine Approaches Alternative medicine approaches to pain reduction and general wellness combine Western medical approaches and treatments still considered “alternative” that many have found beneficial with EDS. Some approaches that have helped people include: Apply heating or cooling pads to painful areas of your body to reduce pain Therapeutic massage, acupressure or acupuncture might provide relief, though check with your doctor to make sure these practices won’t have an adverse effect and find practitioners who understand EDS to prevent issues Practices like meditation, relaxation exercises, breathing techniques and aromatherapy may provide tension relief throughout your body Often times natural supplements or vitamins might be recommended for your symptoms but consult with your doctor before giving them a try. When they’re combined with prescription meds, even though they’re over-the-counter supplements, they can counteract or intensify how your prescribed drugs work. Cannabidiol (CBD) — a cannabis product that will not cause a high — is an emerging alternative treatment for pain. Talk to your doctor first here too as it’s not an FDA-approved treatment for EDS. A doctor can help determine what will be right for your symptoms. It’s worth noting that some influencers in the health space may advocate for eating or drinking collagen supplements. 21 There may be a few small studies highlighting the benefits of consuming collagen in this way. 22 However, the science backing this up is preliminary at best and researchers haven’t looked at the long-term risks or benefits. There’s also no regulation or oversight of the companies producing these collagen products, so it’s unlikely they will be beneficial and could even be harmful. Diet and Nutrition Making changes to your diet helps some people with EDS, especially for those who have food allergies or sensitivities. There isn’t one recommended diet when you have EDS, so talk to your doctor to come up with a plan that works for you. Related: 32 ‘Hacks’ That Can Make Life With Ehlers-Danlos Syndrome Easier 20 Products People With Ehlers-Danlos Syndrome Swear By 23 Shoe Brands People With Ehlers-Danlos Syndrome Recommend Considering Joint Surgery You may need surgery for a variety of EDS symptoms like ruptured arteries or colon complications that should be considered carefully with your treatment team. However, depending on the degree of your hypermobility, dislocations or subluxations, your doctor may suggest a joint-related surgery. For example, surgeons can firm up or stabilize your joints through a process called arthrodesis by fusing together nearby joints or adding a metal structure to the area. This is a controversial practice in the EDS community, and most specialists believe it should be used only as a last resort. 16 Surgery may correct some of your joint issues but inadvertently cause other problems because of the fragility of the connective tissue throughout your body. Your doctors and surgeons need to take into account your EDS at every step of the process. Though surgery may be on your joint, if you have mitral valve prolapse, sometimes called a “floppy heart valve,” surgery can increase your risk of infection in that area. Injections into your muscles may cause extra bleeding and resulting surgical scars may heal poorly or slowly because of skin fragility. Even transferring you on the operating table can cause a problem if your surgical team doesn’t know your joints easily dislocate. In general, the risk of complications when you have EDS following surgery is higher than average, so plan carefully with your doctor before, during and after surgery if it’s the right option for you. Preventing Worsening Symptoms Part of living with EDS is taking precautionary measures to prevent worsening symptoms. This will be different for everyone depending on your subtype, and it’s something you’ll want to address with your doctor. One aspect might be continued monitoring based on your symptoms. If you’re at risk for cardiac or vascular complications, you may check in with your cardiologist frequently. When your EDS symptoms include joint hypermobility and full and partial dislocations, your doctor might want you to avoid certain activities to prevent harm, such as: Pay closer attention to your surroundings to avoid injury by tripping over a wonky sidewalk 23 Protect loose joints with braces, splints or compression clothing where appropriate Avoid activity with a higher chance of joint problems like heavy lifting, intense running on hard pavement Get used to limiting your joint range of motion to prevent them from popping out of place 5, 6 Treating Related Conditions Many people find they have other conditions at the same time as EDS. In addition to directly addressing your EDS symptoms, it’s important to target other health concerns. This will improve the quality of your life, prevent additional complication and ensure you’re taking care of your whole body. Digestive Problems Experts estimate that about 75 percent of people with hypermobile Ehlers-Danlos syndrome (hEDS) experience digestive issues at some point in their lives. 24 Irritable bowel syndrome, which can cause abdominal pain, constipation, diarrhea or nausea can be addressed with diet changes, regular exercise and in some cases medication. Gastroparesis is another digestive complication common among those with EDS. It messes with the normal cycle of your digestive process, delaying digested food from leaving your stomach because of damage to your vagus nerve. 2 As a result, you may experience heartburn, nausea, bloating and in extreme cases malnutrition. Gastroparesis doesn’t have a cure, but it can be managed with medications and to a lesser extent diet. Dysautonomia Dysautonomia is a blanket term for when your autonomic nervous system, which controls automatic bodily functions like your heart or digestive system, goes astray. You may have a more specific type of dysautonomia like postural orthostatic tachycardia syndrome (POTS), but many of the symptoms are similar. Symptoms of dysautonomia may include 6 : Fatigue Dizziness Exercise intolerance Head rushes Racing heartbeat Dysautonomia is treated a number of ways. You may be prescribed medications like beta blockers to reduce your heart rate, among others. Increase your water and salt intake because the extra sodium chloride boosts the amount of blood cells your body produces, which in turn increases your blood pressure. Try different positions for daily activities such as sleeping with your head slightly above the rest of the body by changing the angle of your bed to reduce symptoms. 12 Compression garments like stockings or abdominal binders may also help. 6 Small Fiber Neuropathy Small fiber neuropathy is a painful condition that originates in your peripheral nervous system. It can manifest as numbness, tingling, burning, itching and decreased sensation in your hands, feet or face. 6 In addition, it can cause pain “attacks” or show up as a generalized pain all over your body, making things that aren’t usually painful abnormally painful. You may experience digestive problems, heart palpitations or even, like with dysautonomia, a sudden drop in your blood pressure that leads to dizziness and fainting. 23 At least 30 percent of patients with EDS also have small fiber neuropathy and it’s tricky to treat. 6 Doctors often prescribe medications like antidepressants or anticonvulsants. Alternative pain relief therapies like acupuncture and massage have been recommended, but talk to your doctor to ensure that’s safe to do with your EDS symptoms. Cooling and heating treatments might be beneficial as well as comfortable clothing. 17 Mast Cell Activation Syndrome Mast cell activation syndrome may have an overlap with EDS. 19, 23 Mast cells, a kind of blood cell in your body’s tissues that release immune-regulating chemicals like histamine, don’t work right when you have mast cell activation syndrome. Symptoms may include allergic-like reactions such as itching or a rash, but the condition can impact many systems in your body. There isn’t a specific test for mast cell activation syndrome, and the symptoms can overlap some symptoms of EDS. However, there are a number of clinical symptoms and laboratory test data your doctor can use to support or rule out a mast cell activation syndrome diagnosis by looking at measures such as a validated urinary or serum marker of mast cell activation (MCA), transient increase in serum total tryptase level, an increase in other mast cell-derived mediators, such as histamine, and others. Avoiding triggers — allergens found in food and poisonous animals like bees and some medications, sudden temperature changes or strong smells — sometimes prevents an attack. Your doctor can recommend safe drugs to take and it’s usually best to keep an epinephrine pen (Epi-Pen) on-hand if you have severe attacks. 20 Mental Health Living with EDS can impact your mental health on a variety of levels, and you have an increased risk for developing a mental illness along with EDS. 8 It’s frustrating living with an often invisible illness that requires accommodations outsiders may question and this can lead to an anxiety disorder, obsessive-compulsive disorder (OCD) or depression. 6, 9, 23 It’s easy to become very anxious about your present or your future when you have a chronic illness. 6 For this reason, add a mental health professional to your treatment team, whether that’s a cognitive-behavioral therapist, talk therapist or even a psychiatrist if you need medication. Other Related Conditions EDS occurs with other chronic illnesses, and it’s important to treat as many of these as possible. Other common comorbid conditions you may have include: Autoimmune disorders like lupus or rheumatoid arthritis Fibromyalgia Hypermobility spectrum disorders Chronic fatigue syndrome Other sleep disorders Celiac disease Allergies Heavy menstrual bleeding Preparing for Emergencies It’s a good idea for anyone, but especially with EDS, plan for emergencies. Ensure emergency responders are aware of hypermobile joints and fragile skin and other connective tissue by keeping a wallet-sized card with you at all times. You may even consider a medical bracelet. If you have an EDS subtype that impacts your heart or vascular system, may cause a rupture in your arteries or colon or lead to a collapsed lung, it’s critical to write out an emergency plan. Get your information on file with local emergency rooms just in case, including a list of your treatment team’s contact information. 7 Share all this vital information with loved ones and emergency contacts in the event you’re not able to advocate for your own needs. Pregnancy and EDS Just because you have EDS doesn’t mean you can’t have a successful pregnancy. 13 If you’re considering getting pregnant, talk to your doctor, because women with EDS may be at higher risk for certain obstetric complications like premature labor and premature rupture of membranes. 6 Sometimes your EDS symptoms may include connective tissue fragility in your uterus, cervix or vagina, and your joints may dislocate during the birthing process. Take special precautions if you have the vascular subtype of EDS and see a maternal-fetal specialist who has managed others with your condition. Pregnancy complications like ruptured arteries have led to death in 5 percent of pregnant people with EDS. Opting to have a C-section can reduce your risk. 7 You’ll want to address all of these potential complications prior to getting pregnant and keep in mind that labor and delivery can trigger new or additional symptoms. 7 Living With Ehlers-Danlos Syndrome Like the condition itself, living with EDS will vary depending on your subtype, your symptoms and the other conditions you have in addition to EDS. For most subtypes of EDS, you can expect a normal lifespan and a good prognosis. 5, 6 For those with vascular Ehlers-Danlos syndrome (vEDS) it is associated with a high risk for a reduced lifespan, with the average age of death about 50 years old. 7 Early death is most commonly associated with an artery tear or ruptured artery. For males under the age of 20, there’s a high risk of sudden death due to a vascular rupture caused by a sports-related injury. 7 When you’re able to get a good degree of joint conditioning and treat your other symptoms with medication, therapies and lifestyle changes, you’re more likely to have a better outcome. 6 However, even when you work hard on protective measures to reduce the impact of your symptoms, know that you’re not alone if EDS makes it difficult or impossible to attend school or work. 6 EDS can be variable throughout your life. For example, maybe you have some pain and loose joints when you’re first diagnosed. Then in your early 20s, you might develop dizziness and fatigue and then maybe when you have children that can set off more pain and gastroparesis. 6 Things can add up and you can have new symptoms or new conditions that develop alongside EDS over time. It’s a variable condition. You’ll have some good days and some bad days. Times when you’re not able to walk without assistance and others when you won’t feel many symptoms at all. The condition will be different for everyone. Learn More About Ehlers-Danlos Syndrome: Overview | Symptoms | Diagnosis | Resources Sources American Academy of Ophthalmology. (2015, August 14). What Are the Differences Between Ophthalmologists, Optometrists, and Opticians? Retrieved from American Diabetes Association. (2017). Gastroparesis. Retrieved from American Osteopathic Association. (n.d.). OMT: Osteopathic Manipulative Treatment. Retrieved from Amigues, I. (2019). Fibromyalgia. Retrieved from Atwal, P. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Blitshteyn, S. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Byers, P.H., Belmont, J., Black, J., De Backer, J., Frank, M., … Wheeldon, N. 2017. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 175C:40–47. Retrieved from: Cederlöf, M., Larsson, H., Lichtenstein, P., Almqvist, C., Serlachius, E., & Ludvigsson, J. F. (2016). Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry, 16(1). Retrieved from Chaplin, A. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Chopra, P., Tinkle, B., Homonet, C., Brock, I., Gompel, A., Bulbena, A., & Francomano, C. (2017). Pain Management in the Ehlers–Danlos Syndromes. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 175C, 212-219. Retrieved from Clinical Genetics Society. (n.d.). What Is Clinical Genetics? Retrieved from Dysautonomia International. (2012). Lifestyle Adaptations for POTS. Retrieved from Fitz-Desorgher, R. (2017). Pregnancy, birth, feeding and hypermobile Ehlers-Danlos syndrome / hypermobility spectrum disorders. Retrieved from Gardner, K. (2011). Role of a Physical Therapist. Retrieved from Genetics Home Reference. (2012). Small fiber neuropathy. Retrieved from Hashemi-Nejad, A., & Vanhegan, I. (2016). Orthopaedic surgery in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. Retrieved from Hovaguimian, A., & Gibbons, C. H. (2011). Diagnosis and Treatment of Pain in Small Fiber Neuropathy. Current Pain and Headache Reports, 15(3), 193-200. Retrieved from Liptan, g. (2018). Fibromyalgia [Telephone interview]. Mast Cell Action. (n.d.). About MCAS. Retrieved from Mastocytosis Society. (n.d.). Treatments for Mast Cell Diseases. Retrieved from McRae, M. (2018, May 16). Eating Collagen Is Becoming a Health Fad, And We Can Only Sit Back And Sigh. Retrieved from Proksch, E., Segger, D., Degwert, J., Schunck, M., Zague, V., & Oesser, S. (2014). Oral Supplementation of Specific Collagen Peptides Has Beneficial Effects on Human Skin Physiology: A Double-Blind, Placebo-Controlled Study. Skin Pharmacology and Physiology, 27(1), 47-55. doi:10.1159/000351376 Riley, B. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175C, 48-69. Retrieved from Wait, M. (2018, July 27). Is a Pain Clinic Right for You? Retrieved from Wyant, P. (2017, September 13). 20 Products People With Ehlers-Danlos Syndrome Swear By. Retrieved from

EDS Guide: Ehlers-Danlos Syndrome Support, Resources & More

How to Get Support for Living With Ehlers-Danlos Syndrome To learn more about living with Ehlers-Danlos syndrome (EDS), post a Thought or ask a Question in The Mighty’s EDS community or check out organizations like the Ehlers-Danlos Society, the Zebra Network or Ehlers-Danlos Support UK to find out how others got an EDS diagnosis, treatments that helped, tips for living with an invisible disability, and to give and get support. Learn More About Ehlers-Danlos Syndrome: Overview | Symptoms | Diagnosis | Treatment Join The Mighty’s Ehlers-Danlos Syndrome Community | National Organizations | International Organizations | Resources For Loved Ones EDS Resources: Support for Living With Ehlers-Danlos Syndrome If you’re living with Ehlers-Danlos syndrome (EDS), finding others who understands — medical professionals included — isn’t always easy. However, you’re not alone. If you need additional information, support, resources, doctors who specialize in EDS and ways to talk to others living with the condition, these EDS organizations and online groups are a great place to get started. They may also be helpful to share with your loved ones to help them to better understand EDS. Join The Mighty’s Ehlers-Danlos Syndrome Community The Mighty offers a one-of-a-kind community full of EDS perspectives through stories, the ability to connect and chat with others who have EDS and up-to-date information on the condition. Join The Mighty through the website, mobile app or The Mighty’s Ehlers-Danlos syndrome Facebook page. Plus, you can post your Thoughts and Questions on the website or app to get feedback and support from others anytime you need it. Ehlers-Danlos Syndrome on The Mighty Visit the Ehlers-Danlos page on The Mighty to find personal stories and posts from other people living with EDS. It’s a great place to learn more about the day-to-day life of having EDS from other who’ve ben there, find out what experiences others have had with diagnosis and treatment, and access a supportive community. If you have Ehlers-Danlos syndrome, what treatments have been most helpful to you? The Mighty’s Ehlers-Danlos Syndrome Facebook Page The Mighty’s dedicated Facebook page for those living with EDS shares many of the same amazing stories and resources you’ll find on The Mighty site. You’ll also gain open access to an engaged Facebook community of others living with Ehlers-Danlos. National Organizations These national organizations provide some of the most up-to-date information about EDS for medical professionals, patients and their loved ones in addition to links to other resources to support your day-to-day life with EDS. You can also find referrals to other useful organizations and services as well as patient support groups and hotlines. The Ehlers-Danlos Society (EDS) Perhaps the leading national organization on all things EDS, the Ehlers-Danlos Society is a great place to start if you want even more in-depth information about living with the condition. They also provide a robust resources section, including a medical professional directory, email-based helpline, an e-magazine, a collection or research, an events database and much more. EDS Today EDS Today provides easy-to-navigate access to additional EDS information including myths, news and research. Be aware that the site still references the old subtype classification system and only recognizes six instead of the 13 EDS subtypes now recognized by the 2017 international classification guidelines. EDS Awareness If you want to find local, in-person support groups, EDS Awareness is the place to go. You can search for nationwide supports groups in your area. If you want to start your own, it has resources for that too. It also has great info on ergonomic products to make daily activities more comfortable, coping techniques, a guide for dealing with doctors and an entire section dedicated to EDS-related products. EDSers United EDSers United, based in New Jersey, focuses on both EDS and the wider world of “rare” diseases in general. It offers a detailed list of other rare disease organizations and resources for disability-related questions like tax services and how to get disability placards. Plus, if you want to know why the zebra is related to EDS and other rare diseases, EDSers United breaks it down for you. The Zebra Network The Zebra Network’s got your back thanks to their focus on advocacy, awareness and patient support. The organization was founded by a woman living with EDS, and you can join the Zebra Network member section for free. Once you sign up, you’ll have access to support from other patients, the option to have a peer mentor and other resources. International Organizations EDS information isn’t just U.S.-based! These organizations also provide great information and additional resources that are accessible if you live internationally. This includes in-person support, hotlines and other information. Hypermobility Syndromes Association Based in London, the Hypermobility Syndromes Association isn’t just for people living with hypermobile Ehlers-Danlos syndrome, but for a group of conditions that share connective tissue difference and joint hypermobility like Marfan syndrome. Resources include info and advice, events, a section for professionals and a helpline number you can call for assistance. Ehlers-Danlos Support UK As its name suggests, Ehlers-Danlos Support UK provides a wealth of information for EDS patients across the pond, and really, to anyone with an internet connection. They cover helpful topics like EDS and pregnancy, employment advice and child safety for parents. You can reach specialized volunteer coordinators who assist male-identified and senior EDS patients as well as parents. They have local U.K.-based support groups and a helpline you can call for support. Resources for Loved Ones If someone you love has been diagnosed with EDS, it can be hard to know what to expect or even how to support them. In addition to getting up to date on the symptoms and treatment options for EDS, here are some resources geared just toward those supporting someone with EDS. 17 Things People With Ehlers-Danlos Syndrome Wish Others Would Stop Saying 5 Things I Need From You as Someone With Ehlers-Danlos Syndrome One Simple Act You Can Do to Help Me Manage Ehlers-Danlos Syndrome To the Friend or Family Member Who Doesn’t Understand My Illness The Message That Helped Me Find Help for My Son With Ehlers-Danlos Syndrome 14 Ridiculous Things People Have Said About Ehlers-Danlos Syndrome 17 Myths About Ehlers-Danlos Syndrome That Make It Even Harder to Live With To My Partner Who Has Watched My Health Decline Why Deciding Whether to Have Children Is Difficult as Someone With Ehlers-Danlos Syndrome How My Family Advocates for My Ehlers-Danlos Syndrome How My Husband Keeps Me Fighting Through Ehlers-Danlos Syndrome Caring For Someone With EDS/HSD | The Ehlers-Danlos Society Learn More About Ehlers-Danlos Syndrome: Overview | Symptoms | Diagnosis | Treatment

Ehlers-Danlos Syndrome Guide: Ehlers-Danlos Syndrome Diagnosis

How Do You Get an Ehlers-Danlos Syndrome Diagnosis? To get an Ehlers-Danlos syndrome (EDS) diagnosis, your doctor will review your medical and family history, perform a physical examination and in some cases will order genetic testing. Of the 13 EDS subtypes, 12 can be confirmed with genetic testing. However, doctors don’t know which genes cause the most common type of EDS, hypermobile Ehlers-Danlos syndrome (hEDS). To diagnose hEDS, doctors rely on your history and a physical examination. Learn More About Ehlers-Danlos Syndrome: Overview | Symptoms | Treatment | Resources Medically reviewed by Shanda Dorff, M.D., FAAFP What to Expect When You Suspect EDS | Hypermobile Ehlers-Danlos Syndrome | Genetic Diagnosis For Other Subtypes | Other Conditions to Consider Understanding EDS: Getting an Ehlers-Danlos Syndrome Diagnosis Though the symptoms of Ehlers-Danlos syndrome (EDS) were first observed as far back as the 1600s and named in the 1900s, it’s a condition that flew under the radar for many years. As their understanding of Ehlers-Danlos syndrome (EDS) has increased, doctors and scientists realized they needed a better system to group the symptoms of each EDS subtype. In 1967, the first three types of EDS were classified by A.P. Barabas followed by Beighton in 1969, who outlined five types of the condition. Around 1988, doctors used “Berlin Nosology” to guide diagnosis, which included 11 EDS subtypes. 10 This document was updated in 1998 and became the “Villefranche Nosology.” Doctors slimmed the number of EDS subtypes down to six major types. However, the old 1998 criteria didn’t take into account some of the rarer but clinically distinct subtypes we now recognize. In 2017, doctors and scientists came together to create the 2017 International Classification for the Ehlers-Danlos Syndromes. 10 The new criteria established 13 EDS subtypes and outlines the clearest picture of diagnosis for doctors. It outlines the physical signs (observable evidence of the condition) and symptoms (what you experience) associated with each type of EDS and the genes identified to cause each of these types. When your doctor reviews your symptoms in relation to the new international EDS criteria, they record your major and minor symptoms. Each subtype of EDS has major criteria, meaning symptoms that more than 80% of people with that subtype will have. 10 The minor criteria include less consistent signs and symptoms that will help your doctor make an accurate diagnosis as well as guide treatment. In total, there are over 100 separate signs and symptoms across all 13 subtypes of EDS. What to Expect When You Suspect EDS EDS can be a tricky condition to diagnose because of the wide range of symptoms. EDS was also considered “rare” for a long time. Most subtypes of EDS are indeed quite rare — sometimes only one case out of every 1 million people. However, experts now realize EDS is much more common than they thought. It’s estimated that as many as 1 out of every 3,000 people have hypermobile Ehlers-Danlos syndrome, the most common subtype. 1 When your doctor suspects EDS, there are two ways they might make a diagnosis. For 12 of the 13 subtypes of EDS, you may be referred to a geneticist or your doctor may order a genetic test to determine which of your collagen or connective tissue genes might show a change. Depending on the genes affected, your doctor will be able to confirm which subtype of EDS you have as well as potentially rule out other similar conditions. However, scientists haven’t figured out which gene or genes cause hypermobile Ehlers-Danlos syndrome (hEDS), so your doctor will make a clinical diagnosis based on your signs and symptoms. In some cases, your physical therapist might be the first professional to suspect you have EDS because they recognize joint hypermobility during assessment. This information is still quite new, so many doctors haven’t caught up on what EDS looks like. For this reason, many people wait years until they’re properly diagnosed. They may be misdiagnosed completely more than once, or worse, their symptoms dismissed. It may also take some time to manage other complications or get to the bottom of the underlying complications that weren’t evaluated at a younger age. Hypermobile Ehlers-Danlos Syndrome Hypermobile Ehlers-Danlos syndrome (hEDS) is the only subtype of EDS for which there isn’t a genetic test yet. Your doctor must review your medical history, complete a physical examination and compare your signs and symptoms to the official 2017 International Classification for the Ehlers-Danlos Syndromes diagnostic criteria. In order to make an hEDS diagnosis, your doctor will make sure you meet all three of the criteria groups. 10 Criteria 1: Generalized Joint Hypermobility The first criteria a doctor will check is generalized joint hypermobility. This means many of your joints move beyond what’s considered average. If you only have one overly flexible joint, that’s not enough to meet the criteria for an hEDS diagnosis. Your doctor will assess your joint hypermobility by using the Beighton Score system, which measures your flexibility in different joints in your hands, arms, legs and lower spine. Beighton Scoring System The Beighton Score is a non-invasive test during which your doctor will ask you to perform a series of five different movements to measure your flexibility. 6 This includes your pinky fingers, thumbs, elbows, knees and your lower spine. For some parts of the test, your doctor may need to measure the precise angle of your joints with a tool called a goniometer, which is like a protractor for your joints. For example, in one test to determine your Beighton score, you’ll sit with your arm sticking straight out in front of you so it forms a 90-degree angle with your body. Turn your hand so the palm faces the floor. Now gently pull your thumb toward your forearm, which is facing the floor. If you are able to pull your thumb back to make it touch your arm, you get one point for the positive result. You will continue this evaluation through four movements on both the left and right sides of your body in addition to your spine to determine your final score. Each time you test “positive,” you assign a point, with a max number of nine points. The Beighton score is a bit inconsistent from person to person based on your age, gender, height and weight, so it’s only one piece of your total diagnosis. However, for young people who have not gone through puberty, a score of six or more is generally considered a positive diagnosis of generalized joint hypermobility (GJH). For adults past puberty up until age 50, GJH is confirmed with a score of five or more, and after age 50, four or more points are required. Five-Point Questionnaire In some cases, the Beighton scoring system isn’t helpful. For example, if you had joint surgery or use a wheelchair, you may not be able to complete the movements of the Beighton Score, or the test is not accurate. Your doctor can also use a five-point questionnaire to assess the degree of your joint flexibility that takes into account what you can do now and what you could do in the past. The five-point questionnaire is not recommended for children. The five questions you will be asked are: Can you now (or could you ever) place your hands flat on the floor without bending your knees? Can you now (or could you ever) bend your thumb to touch your forearm? As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits? As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? Do you consider yourself “double-jointed”? If you answer “yes” to two or more questions, that’s enough to qualify as having hypermobile joints. Because the Beighton score is different person to person, the five-point questionnaire may also be used in combination with your Beighton score when the Beighton score is one point less than the threshold used for diagnosis (a Beighton score of four for adults, five for children or three for adults over the age of 50). In this case, if you answered “yes” to two questionnaire questions, your doctor would still consider that confirmation of hypermobile joints. Criteria 2: Other Symptoms Criteria 2 for an hEDS diagnosis looks at both your other signs and symptoms and your family’s medical history, including other relatives who have been diagnosed with hEDS. There are three parts to criteria 2 — parts A, B and C. When considering an hEDS diagnosis, you need to meet the criteria for at least two of the three parts. In part A, your doctor will note your other symptoms from a list of 12 signs associated with hEDS. To “test positive” for hEDS in part A, your doctor will be looking for you to meet at least five of the following signs or symptoms: Skin that feels soft or velvety Some extra stretchiness in your skin Stretch marks on your body not caused by weight gain or loss Painful bumps on your heels called piezogenic papules caused by fat that has pushed through internal layers of your skin More than one groin or abdomen hernia. A hernia happens when organ tissue or fat pushes through tissue inside your body where it shouldn’t and can cause a burning or sharp pain in the area “Dented” or “pitted” scarring, called atrophic scarring, in at least two areas A pelvic floor, rectal or uterus prolapse. A prolapse occurs when the connective tissue holding an organ in places disconnects and the organ — a part of your colon or uterus — comes outside of your body Dental crowding or your teeth don’t seem to have enough room in your mouth Disproportionately long fingers in comparison to the length of your palm, sometimes called “spider fingers” (more often associated with the connective tissue disorder Marfan syndrome than hEDS) Your arm span — the distance from fingertip to fingertip when you hold your arms straight out — is more than 1.05 times your height (more common with Marfan syndrome than hEDS) Mitral valve prolapse, which can be described as when the doors between the chambers of your heart do not open and close appropriately and are a little loose so they extend or dangle a bit beyond their tracts and may cause some problems from not working right, like an irregular heartbeat, chest pain, shortness of breath or dizziness An enlarged or dilated aorta (the main artery in your body) that doctors would measure as being at least two standard deviations above average Part B asks about your family’s health history. If at least one of your first-degree relatives — your parents, siblings or children — have a diagnosis or meet these criteria for hEDS, that will factor into an hEDS diagnosis. Finally, your doctor will ask about “musculoskeletal complications” in part C. Musculoskeletal refers to your bones, muscles and joints. In Part C, there are three complications that can be considered for diagnosis, and for hEDS, you must meet at least one. First, you may have musculoskeletal pain in your bones, muscles or joints in at least two of your limbs, like your arms and legs. Second, you could have chronic widespread pain that isn’t easy to pinpoint. In either case, to make a diagnosis of hEDS, the pain must occur every day for three months of longer. If you meet either of these pain categories, that’s a “positive” result for the part C criteria. A doctor would also consider joint dislocations or joint instability a musculoskeletal complication. To count toward an hEDS diagnosis, your joint dislocations must have occurred at least three times in the same joint or two or more dislocations in two different joints at two different times. In either case, these dislocations can’t be caused by a trauma or obvious injury, like a bicycle accident, for example. Alternatively, joint complications may be general joint instability even if you don’t typically have joint dislocations, which would need to be medically confirmed in at least two separate joints. Criteria 3: Excluding Alternate Diagnoses The part 3 criteria for hEDS makes sure your doctor has done their due diligence when making a diagnosis. Called prerequisites, your doctor will consider three additional factors before making an hEDS diagnosis. First, to be categorized as hEDS, your doctor will look for other signs and symptoms typical of other subtypes of EDS, like fragile skin, severe prolapse, a perforation or unexpected vascular signs. If your doctor identifies any of these signs or symptoms, they will want to rule out the other subtypes of EDS. Secondly, your doctor should rule out other common genetic and connective tissue disorders. This could include autoimmune disorders like lupus or rheumatoid arthritis, and conditions that fall under the banner of rheumatology like fibromyalgia, HIV or Lyme disease. While doctors can test for most of these conditions, it’s still tricky because there is often overlap between symptoms. Plus, you can have EDS and another condition. If this is the case, to diagnose hEDS, you will need to meet all the official diagnostic criteria. Finally, your doctor should rule out alternative diagnoses that include joint hypermobility because of muscle weakness or a connective tissue issue. This could mean other subtypes of EDS along with disorders like Bethlem myopathy, Loeys-Dietz syndrome, Marfan syndrome or skeletal dysplasias that affect bone growth. Excluding these other conditions can be difficult because there are not tests for all of them. Doctors will have to carefully consider your signs and symptoms, medical history, genetic testing and other available lab tests. Genetic Testing There is no genetic test to confirm hEDS because researchers don’t know which gene causes the collagen protein differences in hEDS. Geneticists theorize it could be more than one gene or several different genes with mutations or changes that interact in a way to cause hEDS. 1 Another theory suggests it might be caused not by your genes or DNA itself, but something happens as the information is processed by your biology. Genetic testing can be useful to exclude the 12 other subtypes of EDS just in case. 1 Though science has evolved significantly in recent years, there are still limits to how much information we can discover with current DNA technologies. As science advances and new technologies are developed, scientists are hopeful they will discover the genetic cause of hEDS, so it’s easier to diagnose through genetic testing. Hypermobile EDS Versus Hypermobility Spectrum Disorders Sometimes your doctor may suggest another hypermobile condition generally called hypermobility spectrum disorders (HSD). The label was created as an alternative diagnosis when you don’t fulfill all the diagnostic requirements for hEDS. 14 Hypermobility can be thought of on a spectrum in terms of how severe your symptoms might be. At one end of the scale, you may have flexible joints without pain or other symptoms. At the other end of the HSD spectrum, you meet the full criteria to be diagnosed with hEDS. 7 The additional consideration of HSD allows doctors a kind of in-between diagnosis. 14 Since doctors can’t confirm hEDS via genetic testing, they may opt to give you an HSD diagnosis if they’ve ruled out other conditions with joint flexibility but are unable to make a full hEDS diagnosis based on the strict criteria. Genetic Diagnosis for Other Subtypes Once your doctor suspects an EDS subtype based on the symptoms you report, your doctor may order a genetic test or refer you to a geneticist. Ideally, genetic testing can confirm or rule out an EDS diagnosis by looking for changes in collagen-related genes connected to the EDS subtypes. Outside of hEDS, the other 12 EDS subtypes are associated with specific, distinct genes. However, if you’re not able to get genetic testing because it’s too expensive or you can’t find a lab near where you live, your doctor can still make an EDS diagnosis based on your signs and symptoms. Having a diagnosis, with or without testing, will support your treatment, preventative measures and even your prognosis. 2 When you’re sent for testing, a clinical geneticist has the expertise to determine the genes that point to an EDS diagnosis versus any of more than 200 other inherited connective tissue-related diagnoses. 5 The test is non-invasive and is done by testing a blood, hair, tissue or saliva sample sent to a genetics lab. 19 Geneticists can also test the amniotic fluid around a fetus during pregnancy to look at genetic material. They will usually use molecular testing, which looks at a small era of your DNA to zero in on specific genes to look for variations. 9 Once the results have been finalized in the lab, the results are sent to both you and your doctor for review. If your doctor recommends genetic testing, it can be expensive. Health insurance will sometimes cover at least some of the cost of a genetic work-up if it’s recommended by your doctor. 15 In the U.S., the cost can still range from $100 to more than $2,000 or more, depending on what you need, where you go, what your insurance may cover or if you pay out of pocket. 15 Know that sometimes it may be 10 times more expensive when a genetic test is billed to your insurance company because of additional administrative fees. Though if your insurance covers genetic testing, your out-of-pocket cost will usually be less than the amount billed to your insurance company. Classical Ehlers-Danlos Syndrome (cEDS) To diagnose classical Ehlers-Danlos syndrome (EDS), a geneticist looks for a mutation in your type V collagen genes, COL5A1 and COL5A2, the root of 90 percent of cEDS cases. 10 The differences in your skin, which includes stretchiness, dented or atrophic scars, easy bruising and fragile skin, are a hallmark of cEDS thanks to these genes’ involvement. In rare instances, changes to your type I collagen genes — COL1A1 c.934C>T, p.(Arg312Cys) — may be the underlying cause of cEDS. 10 If you have this genetic change, you’re more likely to have dangerous blood vessel or heart complications, so it’s important to distinguish this version of cEDS right down to the genetic level. Vascular Ehlers-Danlos Syndrome (vEDS) Because vascular Ehlers-Danlos syndrome (vEDS) impacts your blood vessels and is associated with ruptured arteries or organ failures, it’s especially important to diagnose as soon as possible. The gene most often linked to vEDS is COL3A1, a gene that encodes your type III collagen. 10 In rare cases, a geneticist might find changes in your type I collagen genes, COL1A1, which is linked to more vascular system issues and a more severe course of illness. 10 This type of EDS is also associated with multiple family members during at young ages from complications such as aneurysms or ruptures. Classical-like EDS (clEDS) To test for classical-like Ehlers-Danlos syndrome (clEDS), geneticists will look at your TNX-related genetic material. TNX is a type of protein linked to your muscle tissue, tendons, ligaments and skin. Mutations in your TNXB gene cause TNX to be absent completely, which leads to clEDS. 3 This gene is autosomal recessive, which means the gene may skip a generation because you’d need to a copy of the changed gene from both of your parents to get clEDS, as opposed to only one parent in many of the other types. Cardiac-valvular EDS (cvEDS) Cardiac-valvular Ehlers-Danlos syndrome (cvEDS) has been linked to not having proα2‐chain of type I collagen because of changes in your COL1A2 gene. So far doctors have identified seven different mutations that can cause cvEDS, but they only occur in your COL1A2 gene. This subtype of EDS is very rare, with only six patients from five families confirmed to have the condition. 3 Because this EDS type is autosomal recessive the condition can skip a generation since you need to get a changed version of the gene from both of your parents. Arthrochalasia EDS (aEDS) When testing for arthrochalasia Ehlers-Danlos syndrome (aEDS), your geneticist will look for changes in your COL1A1 and COL1A2 genes that cause all or part of exon 6 to be deleted. So far less than 50 patients have a confirmed aEDS diagnosis. 3 Dermatosparaxis EDS (dEDS) Dermatosparaxis Ehlers-Danlos syndrome (dEDS) was first identified in the early 1970s because animals get the condition as well. 3 It’s caused by a change in the ADAMTS2 gene, the gene behind the procollagen I N‐proteinase that’s essential for healthy collagen proteins and therefore connective tissue. Notably, of the less than 20 patients known to have this rare EDS subtype, all diagnoses were made between birth and 13 years old. 3 Dermatosparaxis EDS is also autosomal recessive so you’d need the changed ADAMTS2 gene from each of your parents or you won’t get the condition. Kyphoscoliotic EDS (kEDS) Two genes have been linked to kyphoscoliotic Ehlers-Danlos (kEDS). 10 In most patients, changes in the PLOD1 gene, which affects a procollagen enzyme crucial to the stability of your collagen, cause kEDS. Another gene, FKBP14, responsible for encoding FKBP22, has more recently been linked to kEDS. You geneticist will diagnose based on what they find in either of those genes. Though it’s linked with two different genes, kEDS is autosomal recessive, so even if you parents have it, it can skip a generation because you would have to inherit the changed gene from both of your parents as opposed to just one. Brittle Cornea Syndrome (BCS) Brittle cornea syndrome (BCS) may be linked to a few genes, including ZNF469, which scientists don’t know much about, or PRDM5. Geneticists have found at least one family diagnosed with BCS that doesn’t have either of these genes. 10 This means another gene may also cause BCS, and there’s a chance you may be diagnosed with BCS even without genetic confirmation. If only one of your parents has this type of EDS, there’s a chance you may not get the condition because it is autosomal recessive and requires each of your parents to pass along a changed collagen gene. Spondylodysplastic EDS (spEDS) To diagnose spondylodysplastic Ehlers-Danlos syndrome (spEDS), your geneticist will investigate three different genes that affect your connective tissue: B4GALT7, B3GALT6 or SLC39A13. 10 Your doctor may find clues about which of the three genes are implicated based on slightly different spEDS minor symptoms associated with each gene. It’s also autosomal recessive, so you will only get spEDS if both of your parents also have one of the associated changed genes. Musculocontractural EDS (mcEDS) Musculocontractural Ehlers-Danlos syndrome (mcEDS) has been associated with a few different genes, including several mutations in the CHST14 gene, DSE gene differences and changes in the D4ST1 gene. These changes are autosomal recessive, which means in order for you to get this type of EDS, both of your parents would have to carry the gene as well, otherwise, it could skip a generation. In the past, three separate conditions were outlined based on the same deficiency related to the D4ST1 gene, so you’ll want to be sure your doctor is referencing the most current  2017 information about mcEDS. 3 Myopathic EDS (mEDS) Geneticists can identify if you have myopathic Ehlers-Danlos syndrome (mEDS) by testing for changes in your COL12A1 gene, associated with type XII collagen. This type of EDS could be either autosomal dominant or recessive, which means you could get it if just one of your parents has the changed genes or both of your parents must each pass on the gene. Therefore, mEDS can “skip” a generation depending on what pattern of inheritance you have. Your doctor will definitely want to test your genes because mEDS can look similar to other disorders. Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy may have similar symptoms, but these disorders are linked to type XI collagen, not type XII like mEDS. 10 Periodontal EDS (pEDS) Periodontal Ehlers-Danlos syndrome (pEDS) is rare, so to make a diagnosis a geneticist will need to test for variations in your C1R or C1S genes, which can indicate you have the condition. 3 Other Conditions to Consider When your doctor considers a diagnosis of EDS, they will rule out other conditions with overlapping symptoms. They should consider autoimmune, dysautonomia and other musculoskeletal conditions carefully. 2 And don’t forget, you can have more than one condition at the same time, including EDS. The following conditions are ones that doctors will commonly rule out, may misdiagnose or look for in combination with an EDS diagnosis. Autoimmune Diseases Autoimmune diseases occur when your immune system can’t tell the difference between healthy and unhealthy cells, so it becomes overly aggressive or progressive to the point your immune system also attacks your healthy cells without realizing it’s done so. Before it was well understood, EDS was confused as an autoimmune disease such as rheumatoid arthritis or lupus because their symptoms can have so much overlap, including joint pain. EDS, however, is caused by changes in your collagen genes, which isn’t typical in autoimmune conditions. An autoimmune diagnosis can usually be identified or ruled out using blood or other lab tests. Other Connective Tissue Disorders EDS isn’t the only connective tissue disorder that’s inherited, and many features overlap. 4 For example, Marfan syndrome can include longer than average limbs, flexible joints, flat feet and eye-related issues. Unlike EDS, however, Marfan syndrome has been linked to a different protein in your connective tissue called fibrillin-1. 11 Stickler syndrome, which can cause eye problems, very flexible joints and early onset arthritis is also similar to EDS but affects different genes — COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 or COL9A3. 8 Genetic testing can help distinguish between these genetic connective tissue disorders. Osteopenia/Osteoporosis Both osteopenia (lower bone density than average for your age and sex) and osteoporosis (significant bone loss that increases your risk of fractures) can be symptoms of some EDS subtypes, but they are also independent conditions. 14 These bone loss conditions can be diagnosed with a bone density scan. If they’re one of a number of your EDS-related symptoms, a geneticist or EDS-knowledgeable clinician can confirm whether or not they’re a sign of your EDS in most cases. Dysautonomic Conditions It’s common when you have EDS, especially the hypermobile subtype, to also live with dysautonomic health conditions. 2 This group of complications are related to your autonomic nervous system, which regulates functions you’re not consciously aware of, like blood flow, breathing and your digestive system, to keep everything working as it should without you having to remember every breath or tell food which direction to go in your system. EDS patients often develop irritable bowel syndrome (IBS) or postural orthostatic tachycardia syndrome (POTS), where you feel light-headed, have head rushes when standing up or faint, with EDS. Your doctor may even consider these other conditions as a sign you have EDS because they occur together so often. Fibromyalgia EDS can cause considerable chronic pain, especially hEDS, though because the other types of EDS are less, it’s hard to study how much chronic pain the other types can cause. Your EDS chronic pain is often misdiagnosed as fibromyalgia. 2 The three major symptoms of fibromyalgia include widespread pain, fatigue and cognitive trouble like short-term memory issues. Notably, the pain you feel with fibromyalgia is primarily in your muscles and other soft tissue. While you can have pain anywhere with EDS, it’s more likely to center around your joints. There isn’t an accurate test for fibromyalgia yet, but EDS can be diagnosed via genetics or by closely following the comprehensive hEDS diagnostic criteria outline. Related: What Is Fibromyalgia? Symptoms of Fibromyalgia Getting a Fibromyalgia Diagnosis Mast Cell Activation Disorders Your doctor may want to check for mast cell activation disorders. 12, 14 Mast cells are a type of blood cell that release many immune-regulating mediators like histamine, chromogranin A, heparin and tryptase. If you have a mast cell activation disorder, these cells go haywire and respond incorrectly to internal triggers, leading to allergy symptoms such as itching and rashes that impact a number of systems in your body. Mast cell activation is a more controversial and developing area of research. Based on the latest available information, it is more likely you will experience histamine-related allergies and intolerances as opposed to mast cell activation or mast cell activation disorder. Related: 22 Photos That Show What Mast Cell Activation Disorder Looks Like Chronic Fatigue Syndrome Chronic fatigue syndrome typically has three major symptoms that may sound familiar — fatigue, chronic pain and trouble thinking clearly. Chronic fatigue syndrome is another condition your doctor may consider along with EDS, but chronic fatigue is a common EDS symptom. This is because while you can strengthen your muscles, you can’t strengthen your ligaments that hold bones together or tendons that attach muscles to bones. If you have hEDS and cEDS especially, you likely will have extra muscle fatigue because your muscles have to do three full-time jobs (as muscles, tendons and ligaments) 24/7 that can lead to chronic fatigue. Learn More About Ehlers-Danlos Syndrome: Overview | Symptoms | Treatment | Resources Sources Atwal, P. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Blitshteyn, S. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Brady, A. F., Demirdas, S., Fournel-Gigleux, S., Ghali, N., Giunta, C., Kapferer-Seebacher, I., …  Malfait, F. (2017). The Ehlers-Danlos syndromes, rare types. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175C, 70-115. Retrieved from Chaplin, A. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Ehlers-Danlos Society. (2017). EDS Diagnostics 2017. Retrieved from Ehlers-Danlos Society. (n.d.). Assessing Joint Hypermobility. Retrieved from Ehlers-Danlos Society. (2017). Hypermobile Ehlers-Danlos syndrome (hEDS) vs. Hypermobility Spectrum Disorders (HSD): What’s the Difference? Retrieved from Genetic and Rare Diseases Information Center. (2018). Stickler syndrome. Retrieved from Genetics Home Reference. (2018). How is genetic testing done? Retrieved from Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., . . . Tinkle, B. 2017. The 2017 international classification of the Ehlers–Danlos syndromes. American Journal of Medical Genetics Part C, 175C: 8–26. Retrieved from Marfan Foundation. (2018, October 03). What is Marfan Syndrome? Retrieved from Mast Cell Action. (n.d.). About MCAS. Retrieved from Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175C, 48-69. Retrieved from Riley, B. (2018). Ehlers-Danlos Syndrome [Telephone interview]. What is the cost of genetic testing, and how long does it take to get the results? – Genetics Home Reference – NIH. (2018). Retrieved from

Ehlers-Danlos Syndrome Guide: What is Ehlers-Danlos Syndrome?

What Is Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome (EDS) is a genetic condition that affects collagen, a connective tissue everywhere in your body, including your joints, ligaments and tendons, skin and organ tissues. The most common EDS symptoms include overly flexible joints, stretchy or loose skin and easy bruising. There are currently 13 subtypes of EDS. The most common is hypermobile Ehlers-Danlos syndrome (hEDS). Learn More About Ehlers-Danlos Syndrome: Symptoms | Diagnosis | Treatment | Resources Medically reviewed by David S. Saperstein, M.D. What Are the Types of Ehlers-Danlos Syndrome? | Who Gets Ehlers-Danlos Syndrome? | What Causes Ehlers-Danlos Syndrome? Your friends may think your overly flexible joints make a great party trick, but for you they can be quite painful. This is especially true when your joints dislocate, which happens often, even when you try to pick up something “normal” like a shopping basket full of groceries. Sometimes joint dislocations happen so often you need braces or splints to get through everyday activities. Your skin may also be stretchy — you can easily pull it away from your body — and it’s fragile. You’re prone to bruising and a lot of times you don’t even know what caused the bruise. When you get a cut, it doesn’t heal very fast. You may also struggle with digestive system issues, chronic pain, fatigue and feeling dizzy or fainting. These symptoms may indicate you have Ehlers-Danlos syndrome, which in addition to your joints and skin can affect everything from your eyes to your internal organs like the heart, how much you grow and your teeth and gum health. Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that affects the protein collagen in your body. Collagen is a key component of your connective tissue — the “glue” that holds everything from your joints to your organs in place. There are 13 types of EDS, each with a specific set of symptoms that’s tied to a specific gene or group of genes causing problems with your connective tissue. EDS is most often passed through families, and you will have the same subtype of EDS as other members of your family, though your symptoms could be milder or more severe than your parents’, siblings’ or children’s. To determine whether or not you have EDS and what subtype you have, your doctor will look at your symptoms. All of the subtypes of EDS except for hypermobile Ehlers-Danlos syndrome are tied to specific gene changes that doctors can identify. You may be referred to a geneticist or other EDS specialist to test your genes to confirm your EDS diagnosis. There is no cure for any of the types of EDS, but treatments like joint exercises and pain management can provide symptom relief and prevent the condition from getting worse. What Are the Types of Ehlers-Danlos Syndrome? There are currently 13 types of Ehlers-Danlos syndrome (EDS) that experts recognize. All types of EDS are considered rare, though hypermobile EDS (hEDS) is the most common — it’s estimated 1 out of 5,000 people have hEDS. Doctors will determine your EDS subtype based on your symptoms and the genes affected if you’re sent for genetic testing. Hypermobile EDS (hEDS) If you have EDS, there’s a good chance you have hypermobile Ehlers-Danlos syndrome (hEDS). Doctors estimate that 80 to 90 percent of people with EDS have hEDS. This equals approximately 1 out of every 3,000 people or 2.25 million people worldwide. It’s the most common inherited tissue disorder known. 4 As its name suggests, the primary symptom of hEDS is joint hypermobility, or very flexible joints, which is measured using the Beighton scoring system. Even though it’s the most common type of EDS, scientists still aren’t sure which gene causes it. Doctors believe it may actually be caused by more than one gene, but additional research is needed. Classical EDS (cEDS) The first subtype of EDS to be identified in the 1960s, classical Ehlers-Danlos syndrome (cEDS) causes stretchy skin, overly flexible joints (hypermobility) and scars that look “dented.” When you have cEDS, a geneticist can tell by looking for a mutation or unexpected change in your type V collagen genes, COL5A1 and COL5A2. In rare cases, your collagen 1 gene COL1A1 can also cause EDS, which leads to more serious vascular or blood vessel complications. Though genetic testing can identify mutations in most people with cEDS, there are still a number of times when you may have all the symptoms but no gene changes will be detected. The classical type of EDS is estimated to be the second-most common type, behind hEDS, with 1 in every 20-40,000 people having the condition. 3 Vascular EDS (vEDS) Vascular Ehlers-Danlos syndrome (vEDS) is one of the most serious types of EDS because it affects your blood vessels, which are vital for the health of your organs. Those with vEDS may rupture an artery at a young age, with colon ruptures a major symptom. When not treated right away, these ruptures can be fatal. The average life span with vEDS is about 51 years. This type is relatively rare. It’s thought to occur in about 1 out of every 200,000 people. A mutation in your COL3A1 gene, which is responsible for type III collagen, has been linked to vEDS. In rare cases, your COL1A1 collagen 1 gene can also be affected. Classical-like EDS (clEDS) Classical-like Ehlers-Danlos syndrome (clEDS) has many features in common with the classical type of EDS. If you have clEDS, your skin may be both stretchy and feel velvety and you may have joints that are more flexible than most of your friends. You might also bruise more easily than others. To find out if you have clEDS, a geneticist will test your TNXB gene to look for differences that cause the condition. Cardiac-valvular EDS (cvEDS) The main symptoms of Cardiac-valvular Ehlers-Danlos syndrome (cvEDS) include flexible joints, stretchy skin that bruises easily and progressive heart problems caused by connective tissue issues in your heart valves. This type happens when you don’t have proα2‐chain of type I collagen because of mutations in your COL1A2 genes. It’s estimated that less than one out of every 1 million people have cvEDS. 6 Arthrochalasia EDS (aEDS) If you’re experiencing frequent hip dislocations in addition to joint hypermobility and stretchy skin, your doctor may consider the subtype arthrochalasia Ehlers-Danlos syndrome (aEDS). A geneticist will confirm your aEDS diagnosis by looking for mutations in your COL1A1 and COL1A2 genes. Dermatosparaxis EDS (dEDS) Dermatosparaxis Ehlers-Danlos syndrome (dEDS) shares a prefix with dermatology for good reason as dEDS mostly affects your skin. Your skin may be fragile, you might get extra wrinkles on the palms of your hands and you can get bruises so severe they hemorrhage. In addition, you might not grow as tall as you would expect. This is all caused by a mutation in your ADAMTS2 gene, the gene behind the procollagen I N‐proteinase. Kyphoscoliotic EDS (kEDS) Depending on which of your genes are affected, Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) might present a little differently. Almost everyone with kEDS experiences low muscle tone; joint dislocations, especially in your shoulders, hips and knees; and kyphoscoliosis, which causes your spine to curve in ways it’s not supposed to. If the gene PLOD1 causes your kEDS, you will also have fragile skin and a smaller than usual cornea in your eye. When a FKBP14 gene mutation is the cause of your kEDS, you may experience hearing and bladder issues as well as thick skin. Brittle Cornea Syndrome (BCS) Brittle cornea syndrome (BCS) is a subtype of EDS that mostly affects your cornea, the clear outer layer of your eyes. You may have a bluish hue in the white area around your eyes, and the shape of your cornea may change because it’s thinner than it should be. BCS has been linked to several different genes, including ZNF469, PRDM5 or a zinc finger protein that scientists don’t know much about. Spondylodysplastic EDS (spEDS) There are three genes linked to spondylodysplastic Ehlers-Danlos syndrome (spEDS):  B4GALT7, B3GALT6 or SLC39A13. Each of these genes changes cause you to have slightly different symptoms. The main markers of spEDS are low muscle tone, bowed limbs and not growing as tall as expected. Musculocontractural EDS (mcEDS) Because connective tissue determines the structure of almost all parts of your body, depending on the collagen genes that your EDS impacts, you might not have joint flexibility but rigid or overly inflexible joints, muscles or tendons. This is the case with musculocontractural Ehlers-Danlos syndrome (mcEDS), even though it’s opposite of the hyperflexibility in most other EDS subtypes. If you do have mcEDS, also look for stretchy skin, extra wrinkles and easy bruising and scarring. To confirm a diagnosis, your geneticist will look for mutations in several of your genes, including CHST14, D4ST1 and DSE. Myopathic EDS (mEDS) Myopathic Ehlers-Danlos syndrome (mEDS) causes you to have a mix of rigid and overly flexible joints. Typically your knees, hips and elbows will be rigid and stiff while joints in your hands and feet are more flexible than usual. A geneticist will confirm if you have mEDS by searching for a mutation in your COL12A1 gene that determines your type XII collagen. Periodontal EDS (pEDS) Periodontal Ehlers-Danlos syndrome (pEDS) primarily causes dental and gum problems in addition to joint flexibility and fragile skin. If you have pEDS, your C1R or C1S genes may be mutated, which can be confirmed by genetic testing. Who Gets Ehlers-Danlos Syndrome? Across the 13 subtypes of EDS, it’s hard to estimate exactly how many people have the condition. EDS types like hEDS are common, while other forms, like cvEDS are very rare. On average, most experts estimate 1 of every 5,000 people has one type of EDS or another. 3 Scientists and doctors also believe the rates of recorded EDS cases might be low because you may have such a mild case of EDS that you never need to go to the doctor for it. EDS has been recorded in all genders of all ethnic backgrounds. 1 There are more recorded cases of female-born EDS patients than male-born EDS patients. Because EDS is a genetic disorder, children are born with the gene mutations that cause the syndrome. Early in life, kids may show off their double-jointed limbs to friends or get a slow-healing fracture at a sports game that causes suspicion. However, many children naturally outgrow hypermobile joints by the time they turn 5 years old. For this reason, some doctors recommend waiting to evaluate young people for EDS until they are at least 5 or 6 years old, though many patients are much older by the time they get the correct diagnosis. 5 What Causes Ehlers-Danlos Syndrome? EDS is a genetic condition, not an autoimmune disease as some people think. EDS, in particular, affects your collagen genes. Collagen is a protein that gives your body structure, forming connective tissue and keeping everything in your body in place. When you look at the collagen of an EDS patient under a microscope, you might see fewer cells than you would for a patient without EDS. These collagen levels are controlled by your genes and whether or not they have mutated or changed. There are two ways you might get EDS and the collagen-related symptoms that come with it. The first is inheriting the condition from your family. If one of your parents has the changed gene for EDS, they passed it to you. The other way you can get EDS, even if nobody in your family has it, is when your genes are copied wrong when you are conceived. This is called a de novo or “new” case of EDS. Genetics 101 Your DNA is basically your biological blueprint. In your DNA, you have a collection of genes that each determine who you will be. What eye and hair color will you have? How tall will you be? What illnesses or syndromes will you be at risk for? You have two copies of the same gene, one inherited from your biological mother and another inherited from your biological father. Depending on the data contained in those genetic “files,” your genes will “express” themselves per the rules or patterns of genetics. There are two types of genes — dominant and recessive — that when combined determine what characteristics you will inherit. You could have two dominant or two recessive genes or a combination of one dominant and one recessive gene. Each combination encodes a different trait into your DNA. When you get a dominant and recessive gene, think of the dominant gene as the “louder” one. It’s the gene you can’t ignore, and the information in the dominant gene is the one that “wins” and gets expressed. Only when you get two recessive genes together do those recessive characteristics have a chance of making it out into the world. Inheriting EDS Whether or not you have EDS and what subtype you have is similarly determined by your dominant and recessive genes, specifically the genes that regulate your body’s collagen or connective tissue. Some subtypes of EDS are transferred by a dominant gene, which means if your parents, siblings or children have the condition, you have a 50 percent chance of inheriting the same gene variant. 1 Other types of EDS are considered recessive, which means you only have a 25 percent chance of inheriting EDS. But for you to have EDS, you would need two copies of the changed collagen gene instead of just one copy as is the case in a dominant inheritance pattern. You also have a 50-percent chance of inheriting one recessive EDS-causing gene from one parent but not the other. This means you may never have EDS, but you are a carrier of the recessive gene that causes it, which can be passed on to your children later. Subtypes also usually run in families. So if your mother has the hypermobile form of EDS, that’s the same subtype you would get as well. However, you may have severe EDS symptoms and another family member may have such mild symptoms they never have to go to the doctor. De Novo EDS Even if no one in your family has ever had EDS, you can still get the condition. When you get a “new” case of EDS, meaning it wasn’t inherited from your family, it’s called “de novo” or “new.” This happens when your genes aren’t copied correctly during conception. As your genetic material is copied from your parents’ genes, a mistake could be made that happens to be the exact same mutation that causes a type of EDS. Some experts believe as many as 50 percent of EDS cases could be new and not inherited from a family member. 2 Learn More About Ehlers-Danlos Syndrome: Symptoms | Diagnosis | Treatment | Resources Sources Atwal, P. (2018). Ehlers-Danlos Syndrome [Telephone interview]. Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017). Ehlers–Danlos Syndrome, Classical Type. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 175C, 27-39. Retrieved from Genetics Home Reference. (2017). Ehlers-Danlos syndrome. Retrieved from Levy, H. P. (2018, June 21). Hypermobile Ehlers-Danlos Syndrome. Retrieved from Neilson, D. (2013, August 19). Ehlers-Danlos Syndrome: The lengthy road to diagnosis. Retrieved from Orphanet. (n.d.). Cardiac valvular Ehlers Danlos syndrome. Retrieved from