Genes are the bundles of DNA that your body uses to make proteins. There are thousands of genes involved in making the proteins that protect your muscles from damage. Muscular dystrophy (MD) is a group of more than thirty genetic diseases the impact these genes.
In people with MD, one or more of these genes is faulty. As a result, the proteins your body needs to make protective muscle fibers don’t function properly or in some cases don’t get made at all. Without this protection, muscles weaken over time, which can seriously impact the lives of those with the condition.
The muscle groups affected by muscular dystrophy and the age at which you first notice symptoms varies a lot depending on your type of muscular dystrophy. Many types of muscular dystrophy have been identified. The type you live with also determines your prognosis in large part.
I have a condition called autosomal recessive titin myopathy, a rarer form of muscular dystrophy. My disorder causes progressive degeneration of the muscles, significant pain in my joints and muscles, atrophy, hypermobile joints, and heart problems.
Titin myopathy is still largely misunderstood, so it will take years to learn more about how my condition really affects people. There are ups and downs of having a rare disease, but I have two dogs that help me feel better when I’m sad or down. I love music and choir and spend as much of my time singing as I can. In my spare time, I make graphics on Instagram to raise awareness for rare diseases and mental illness.
If you’re reading this, odds are you want to spread awareness, too. With that in mind, I’ve put together five things to know about muscular dystrophy for those interested in learning more about the disease.
1. Muscular dystrophy is often passed down along family lines — but not always.
The gene changes that cause muscular dystrophy are often passed down along family lines, and if you suspect you have MD, your doctor will take a close look at your family’s medical history. However, the gene changes that cause muscular dystrophy can also happen spontaneously, meaning that people with MD can be the first in their families to have the condition.
The most common type of muscular dystrophy is called Duchenne muscular dystrophy, and it mainly affects young boys. There are many types of muscular dystrophy, however, and both males and females can be affected. Other types include:
- Becker MD
- Congenital MD
- Distal MD
- Emery-Dreifuss MD
- Oculopharyngeal MD
- Facioscapulohumeral MD
- Limb-girdle MD
2. Some people with muscular dystrophy live long lives. Others never make it to their first birthday.
The symptoms of muscular dystrophy vary a lot depending on which type you have. Each type involves muscle weakness and deterioration, which grows worse over time. Other symptoms can include difficulty walking, respiratory issues and curving of the spine (scoliosis). Those living with MD may also experience heart problems, behavioral difficulties, difficulty swallowing, foot differences and contractures (shortened muscles or tendons around joints). Other possible symptoms include hearing loss and changes in your facial appearance.
There is no “classic” case of muscular dystrophy. For some people, the condition can appear as late as middle age; others live with its symptoms from the time they are born. Some people with MD are able to walk throughout their lives; most lose the ability. While some people with the condition are able to live long lives, children with muscular dystrophy sometimes succumb to the condition during their teenage years. Some babies with muscular dystrophy are unable to survive their first year.
3. A number of tests are needed to reach a diagnosis.
Muscular dystrophy is rare, and it shares its presentation with a range of other conditions. A doctor who suspects MD will first order a number of tests to rule out anything else that could explain your symptoms. A doctor will also take a close look at your medical history and ask questions about your family history.
Blood and urine tests can detect markers of the condition in the bloodstream; genetic testing can be applied to pick out gene changes that may have caused the disease. Doctors may use exercise tests to assess the patient’s strength. Muscle biopsies, taken with a thin needle, allow the doctor to monitor the condition’s progression. Cardiac testing measures the regularity and strength of your heart, while neurological tests probe for contractions and test your reflexes. An MRI may also help the doctor reach a diagnosis.
4. There is no cure for muscular dystrophy, but treatment can slow it down.
There is no cure for muscular dystrophy. However, people who live with MD can often slow its progression and live more comfortably with the help of experts.
Physical therapy can help to keep muscles lissome and strong. Speech therapy may help those with weakened face and throat muscles, though alternative measures, such as voice synthesizers, may be employed instead. Respiratory therapy helps people whose breathing strength has waned because of MD, though many of those with late-stage muscular dystrophy require assisted ventilation.
Corrective surgery may be needed to repair a contracture or implant a pacemaker in patients at risk of heart failure. People with scoliosis may opt to attach a metal rod or rods to their spine when the pain of the spine’s curving becomes too unbearable. Several drugs have been shown to delay the progression of some types of muscular dystrophy, and occupational therapy can help patients to navigate their homes and workplaces more easily.
There are also other less-intensive things people with muscular dystrophy can do to make their condition more manageable. As muscles deteriorate, it can be harder to find a comfortable position in bed, and investing in a good mattress or extra padding can help you get better sleep. If you’re able, swimming and other gentler forms of exercise can strengthen your muscles.
5. Research efforts for treatments are ongoing.
Muscular dystrophy can be very disabling and is fatal for many. Fortunately, new therapies are being developed, and they may improve the prognosis for people living with MD.
Gene replacement therapy could allow doctors to deliver new genetic materials to cells, allowing patients to produce missing protective proteins and develop healthy muscle. Clinical trials are underway for Duchenne and limb-girdle MD, and researchers are working on ways to make the therapy work for congenital and myotonic MD as well.
Two kinds of genetic modification therapy are also being studied. One would target the defective gene found in patients with Duchenne MD, allowing them to produce protein in spite of the mutation in their gene. The other would alter the protein production process to convert a patient’s Duchenne muscular dystrophy to Becker muscular dystrophy, which has a much better prognosis. The first therapy could help up to 15% of people with Duchenne; the second could be available to 80% of those living with the condition. Clinical trials for both are currently underway.
Cell-based therapy has potential for treating all types of muscular dystrophy. It would involve introducing healthy muscle stem cells to the body, enabling a person with muscular dystrophy to make healthy muscle.
References (click to expand)
- Cure CMD. (n.d.) Undiagnosed CMD, including Merosin Positive. Retrieved from https://www.curecmd.org/undiagnosed-other.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2016, December 1). How is muscular dystrophy diagnosed? Retrieved from https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/diagnosed.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2016, December 1). Muscular Dystrophy: Other FAQs. Retrieved from https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/faqs.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2016, December 1). What are the treatments for muscular dystrophy? Retrieved from https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/treatment.
- Mayo Clinic. (n.d.). Muscular dystrophy. Retrieved from https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388?p=1.
- MedlinePlus. (2019, December 10). Muscular Dystrophy. Retrieved from https://medlineplus.gov/musculardystrophy.html.
- Muscular Dystrophy Association. (2009, December). Facts About Rare Muscular Dystrophies (Congenital, Distal, Emery-Dreifuss and Oculopharyngeal) [PDF]. Retrieved from https://www.mda.org/sites/default/files/publications/Facts_RareMDs_P-214_0.pdf.
- National Institute of Neurological Disorders and Stroke. (2019, December 17). Muscular Dystrophy: Hope Through Research. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Muscular-Dystrophy-Hope-Through-Research#3171_9.
- National Institute of Neurological Disorders and Stroke. (2019, December 17). Muscular Dystrophy Information Page. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page.
Image courtesy of Michelle.
Michelle is an aspiring student currently living with mental illnesses and suspected neuromuscular condition. As a person with both mental health issues and a rare disease, she hopes to raise awareness of her rare disease and advocate for the importance of mental health in a rare disease.
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