Huntington’s Disease: Your GoodRx Guide

What is Huntington’s disease?

Huntington’s disease (HD) — sometimes called Huntington’s chorea — is an inherited disorder that affects the body’s nervous system. 

The hallmark symptoms of the disease are involuntary movements (called chorea), dementia, and mental health conditions. Symptoms can start at any age, but most people first develop symptoms in midlife. HD gets progressively worse with time and there’s no cure.

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What causes Huntington’s disease?

Huntington’s disease is an inherited condition. It’s a rare condition overall but is more likely to develop in people of North American or European descent.

It’s caused by a gene mutation that can be passed down from parent to child. The mutation is a repetition of a specific genetic sequence on the “Huntington” gene known as the CAG repeat or sequence. 

Any parent with the mutation has a 50% chance of passing the mutated gene to their child. And the more repeats someone inherits, the more likely someone is to develop the disease. Fourty or more repeats of the genetic sequence is associated with the development of symptoms.

Scientists are still not entirely sure how the repeating sequence on the huntingtin gene leads to disease. They believe the repetition causes some type of toxicity that leads to a loss of neurons in specific parts of the brain. Over time, the death of these neurons affects both movement and thinking. 

The more repeat CAG sequences someone inherits, the earlier someone develops symptoms. 

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What are the symptoms of Huntington’s disease?

The symptoms of Huntington’s disease can develop at any age. And when they first start, they may be subtle. For example, someone may have difficulty with multitasking, or feel restless and fidgety. 

But as the disease progresses, symptoms will become more obvious. Chorea is the hallmark symptom of HD. Chorea is a dance-like, writhing movement caused by involuntary muscle contractions. It can happen in different parts of the body like the face, torso, or arms. 

Other symptoms of Huntington’s disease can include:

• Abnormal eye movements, called nystagmus

• Lack of coordination

• Trouble walking 

• Muscle rigidity 

• Prolonged and fixed postures, called dystonia

• Depression and mood changes

• Hallucinations and psychosis

• Difficulty making decisions or solving problems

• Dementia-like symptoms, like trouble processing or organizing information (although memory is usually spared)

• Speech impairment

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How do you diagnose Huntington’s disease?

The path to a Huntington’s disease diagnosis usually starts with the development of characteristic symptoms. This is true whether or not someone has a family history of HD. 

The next step is genetic testing, which is the gold standard way to diagnose the disease. The test will analyze your DNA to look for the repeating sequences on the huntingtin gene. Genetic testing is 99% sensitive for Huntington’s disease. This means it catches nearly all cases of HD. And it’s 100% specific for Huntington’s disease. This means if someone’s test is negative, they definitely don’t have the disease.

In the meantime, someone may undergo additional testing to rule out other potential or contributing causes. For example, they may have an MRI of the brain, or EMG (electromyography) testing of the muscles and nerves.  

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What is the treatment for Huntington’s disease?

There’s no cure for Hungtington’s. Treatment is aimed at improving symptoms and quality of life:

• There are some medications that can help with chorea. Tetrabenazine is the most common example. 

• Antipsychotic medications like risperidone can help both with chorea and mental health conditions like depression. 

• Physical therapy, occupational therapy, and speech therapy can help improve symptoms. These therapies can also help people adapt their lifestyle to accommodate any challenges or disabilities from their condition. 

• Although scientists aren’t entirely sure why, later stages of HD are associated with more pain. Pain management usually involves medications like acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs (NSAIDs). 

Many people who are in the advanced stages of the condition choose to enroll in palliative and hospice care programs.

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Living with Huntington’s disease

Living with Huntington’s disease is challenging. And this extends well beyond the physical and mental symptoms. Just coping with the diagnosis — for the person and their family members — is difficult. 

The Huntington’s Disease Society of America has a list of resources that can help if you or your loved one has received a diagnosis of Huntington’s disease. These can include: 

• Community support groups 

• Resources to help manage symptoms

• Assistance with scheduling healthcare appointments

• Guidance on how to discuss the diagnosis with family members who may have also inherited the gene 

Social workers are also a fantastic resource to help people navigate a Huntington’s disease diagnosis. They can help identify resources that may be beneficial to you and your family in planning your life at home with Huntington’s disease. 

Depression and suicide is much more frequent in individuals with HD than in other people. Therapists can help patients and their families work through the challenges that come with an HD diagnosis. And the Suicide Lifeline at 988 is always available to anyone who is concerned about themselves or a loved one. Remember, you’re not alone.