5 Things You Should Know About Huntington's Disease

The brain controls all our actions — decisions, thoughts, speech, movements and more. This means any issues or damage to this complex organ can have a big impact, whether through disease or physical trauma. One of the conditions that affect the brain is Huntington’s disease.

Huntington’s disease (HD) is a fatal genetic disorder that causes nerve cells in the brain to break down over time. As HD progresses, people can lose the ability to move and their personality can change drastically. There is no cure for HD, and one medication is approved to specifically treat involuntary movements from HD, tetrabenazine (brand name Xenazine).

There is a 50% chance the gene mutation that causes Huntington’s disease will be passed down from parent to child. Mighty contributor Lynne Neveu wrote about what it is like for her to watch her mother live with progressive HD symptoms as someone who also tested positive for the gene:

Every daughter wants to be a tireless advocate and support for their parent during their final years, however, that is an incredibly difficult undertaking for me. Despite everyone’s optimism about modern medicine, it’s pretty certain that as I watch my mom die I am getting a preview for my own death in 25 years.

Here are five things you should know about Huntington’s disease.

1. There’s a 50% chance Huntington’s disease will be inherited.

Huntington’s disease is a genetic condition and is inherited as an autosomal dominant trait, which means you only need one copy of the mutated gene to get the condition (instead of two). If a parent has the genetic mutation for HD, there is a 50% chance that their offspring will inherit the condition. The disease is caused by mutations of a gene found in chromosome 4. Around 30,000 people in the United States have HD, and around 200,000 more people are at risk of developing the condition.

Huntington’s disease is more common in people who have European ancestry. It affects between 3 to 7 in 100,000 people of European ancestry and tends to be less common in people of Japanese, Chinese and African descent. There are two types of HD, adult-onset Huntington’s disease and juvenile-onset Huntington’s disease, with the juvenile form being less common.

2. Symptoms tend to appear between age 30 and 50.

Like many other conditions that affect the brain, people with Huntington’s disease may experience a variety of physical and mental symptoms. As HD progresses, people may have difficulty with and lose the ability to think logically, walk and speak. Aggression is a commonly reported symptom of HD, which can be managed through different therapies.

Early symptoms of HD may present themselves differently in people who have adult-onset HD and those who have juvenile-onset. Adult-onset HD may cause people to become depressed, have small involuntary movements, and have trouble with decision making. Symptoms tend to appear between the ages of 30 and 50. According to the Mayo Clinic, some early physical and mental symptoms of juvenile HD include difficulty paying attention, behavioral problems and seizures.

In the middle stage of HD progression, people may lose the ability to work and may need assistance to take care of personal hygiene, according to Huntington’s Disease Society of America (HDSA). Twitching movements, also known as chorea, become more prominent. People may also experience personality changes, which also occurs in conditions like dementia.

When people have late-stage HD, they often become nonverbal and require assistance in all aspects of their life. Psychiatric symptoms may also be harder to manage at this stage. People with adult-onset HD usually live around 15 to 20 years after symptoms first present themselves, and people with juvenile-onset HD usually live 10 to 15 years after signs of HD first appear.

3. Prenatal testing can detect Huntington’s disease.

A diagnosis of HD later in life may be determined through clinical evaluations, a patient’s history and different specialized tests. According to the National Organization for Rare Disorders (NORD), these tests can include computerized tomography (CT) scanning, magnetic resonance imaging (MRI) and electroencephalography (EEG).

Prenatal testing can show whether a fetus has the mutated gene that causes Huntington’s disease. The National Genome Research Institute says to test the fetus for this trait, “DNA is extracted from fetal cells via CVS (chorionic villi sampling) or amniocentesis.”

Doctors may consider Hallervorden-Spatz disease, multiple system atrophy and Sydenham’s chorea while in the process of a differential diagnosis with HD due to overlapping symptoms, according to NORD.

4. Treatment focuses on managing symptoms.

There is no cure for Huntington’s disease, which is considered a fatal disease. Treatment for HD mostly focuses on managing symptoms and offering support. Neuroleptic medication such as haloperidon may help manage involuntary movements in early stages and medication could help manage mental health symptoms, according to NORD. For those looking for support, HDSA offers support groups for people with HD and caregivers.

Tetrabenazine (brand name Xenazine) is one medicine approved by the Food and Drug Administration (FDA) specifically to treat involuntary movements from HD. Tetrabenazine comes in a tablet and is typically taken three times a day, according to Medline Plus. Without insurance, the cost of tetrabenazine for a one-month supply is around $16,128.

Huntington’s disease patients on tetrabenazine may experience adverse psychiatric side effects like depression and suicidality. In a controlled trial, nearly 20% of patients receiving tetrabenazine experienced worsening depression in comparison to none in the placebo group. Other available medications can help manage additional HD symptoms.

5. There are resources to support patients with HD.

If you live with Huntington’s disease or a loved one has been diagnosed with the condition and you want more resources to help manage your life with the condition, Huntington’s Disease Society of America (HDSA) has articles on its website to help you navigate disability services, nutrition and more. While there are not many treatment options now for HD, research is constantly being done. You can stay up to date on HDSA’s blog.

For more insight on living with Huntington’s disease, check out the following Mighty articles:

Huntington's Disease