Huntington’s Disease

Huntington’s disease is a rare, inherited condition that causes nerve cells in your brain to break down, leading to movement, thinking and emotional challenges.

A change in one of your genes causes an abnormal protein to build up in brain cells. It damages them and affects how they function.

You may notice twitching, trouble thinking clearly, or changes in mood or personality. These symptoms can be difficult for both you and your loved ones. A healthcare provider can help you understand what’s happening and support you as symptoms change.

Types of Huntington’s disease

There are two main types of Huntington’s disease:

• Adult-onset: This is the most common type. Symptoms usually start after age 30.
• Early-onset (juvenile Huntington’s disease): This rare type affects children and teenagers. Symptoms appear before age 20.

Huntington’s disease symptoms

Signs and symptoms usually start slowly and get worse over time.

One of the first signs is chorea. This is a jerky or twisting movement you can’t control. Chorea often begins in your hands, fingers or face. It then spreads to your arms, legs and body. This movement can make it hard to speak, eat or walk.

Other physical symptoms may include:

• Problems swallowing or slurred speech
• Stiff or slow movements
• Trouble focusing your eyes
• Trouble with balance or coordination
• Unexplained weight loss

Huntington’s disease also changes how you think and feel. These emotional and mental symptoms may appear before physical ones:

• Acting on impulse or using poor judgment
• Anxiety
• Difficulty planning or making decisions
• Not noticing changes in yourself
• Feeling sad, hopeless or unmotivated
• Mood swings, anger or irritability
• Trouble concentrating or remembering things

These changes can affect your work, school and relationships. As the disease progresses, physical and emotional symptoms can make everyday tasks harder.

Juvenile Huntington’s disease symptoms

This type usually progresses faster and can look different from the adult form. Common symptoms in children and teens include:

• Changes in mood, like irritability or depression
• Clumsiness or balance problems
• Delayed speech or trouble talking clearly
• Muscle spasms or unusual body positions
• Stiff or slow movements
• Trouble at school, like learning problems or lower grades

Teens may also develop chorea and emotional changes similar to adult Huntington’s disease. As time goes on, movement and thinking problems usually become more noticeable.

Huntington’s disease causes

A change in a gene called HTT causes Huntington’s disease. This gene normally makes a protein called huntingtin. It helps your brain cells stay healthy and communicate. The huntingtin protein supports movement, learning and emotional balance.

When the HTT gene changes, it makes a harmful form of the huntingtin protein. This faulty protein doesn’t fold the right way. Think about it like folding a piece of paper. You want it to fold neatly with aligned edges. It instead crumples into a ball.

Because the folding process doesn’t go as planned, it starts to clump together inside your brain cells. Over time, these clumps:

• Damage or destroy brain cells, especially those that control movement and coordination
• Disrupt communication between brain cells
• Cause problems with movement, mood and thinking

As it affects more brain cells, symptoms become more noticeable.

You can inherit the gene change that causes Huntington’s disease. You only need to get the changed gene from one biological parent to develop the condition. This is called autosomal dominant inheritance. In rare cases, the gene change can happen for the first time in someone with no family history of the disease.

How is Huntington’s disease diagnosed?

Doctors diagnose Huntington’s disease by looking at your medical history, symptoms, family history and test results. If one of your biological parents or close relatives has the disease, that information can help guide the diagnosis.

Your healthcare provider will start by checking for common signs and symptoms. The pattern of these symptoms, along with a family history, may strongly suggest Huntington’s disease.

To confirm the diagnosis, your provider may order a genetic test. This test looks for the specific gene change that causes the condition. You’ll usually meet with a genetic counselor before and after testing to help you understand what the results mean for you and your family.

Your provider might also order an MRI. This scan shows detailed pictures of your brain. It can reveal early changes in areas that control movement and coordination.

For families who already know they carry the Huntington’s gene, your provider can offer testing during pregnancy or testing of embryos before pregnancy (for IVF).

Huntington’s disease treatments

There’s no cure for Huntington’s disease right now. But treatment options are available to ease symptoms. Your care team can help you stay independent for as long as possible with:

• Medications
• Supportive care
• Clinical trials

Huntington’s disease medications

Medications may help with movement, mood and behavior changes. Common options include:

• VMAT2 inhibitors (like tetrabenazine or deutetrabenazine): These may reduce involuntary movements.
• Parkinson’s disease medications (like levodopa, dopamine agonists or amantadine): These may ease stiffness and slow movements. Your provider will adjust these medications carefully, as some can make involuntary movements worse.
• Botulinum toxin injections: These may relax muscles that spasm or tighten too much.

Mood and emotional changes are common with this condition. Your provider might recommend:

• Antidepressants (like SSRIs) to manage depression and anxiety
• Antipsychotic medications (like olanzapine, risperidone, quetiapine or aripiprazole), which may calm mood swings
• Mood stabilizers to reduce impulsivity, aggression, irritability or other behavior changes.

Your care team will watch for side effects and adjust your medications as needed.

Supportive care for Huntington’s disease

Supportive care helps you manage symptoms, stay safe and maintain comfort. It may include:

• Adaptive equipment, like walkers, handrails or special utensils to help with daily activities
• Counseling or therapy to help you and your family cope with emotional changes
• Nutrition support to prevent weight loss and make eating easier
• Physical, occupational and speech therapy to improve movement, balance, swallowing and communication

Social workers or case managers can connect you and your family with community resources, home health aides and support groups, if needed.

Clinical trials for Huntington’s disease

Researchers are studying new treatments that may slow the disease, like:

• Gene-silencing therapies to target or turn off the changed gene
• Stem cell therapies to replace or repair damaged brain cells
• New medicines to protect brain cells and reduce protein buildup

Providers are still testing these in clinical trials. Your care team can tell you if any are available or appropriate for you.

When should I see my healthcare provider?

See your healthcare provider if you notice new or worsening symptoms. Let them know if symptoms make it hard to manage your daily activities safely. If you’re already in treatment, your provider may need to adjust your care plan as the condition changes.

Call emergency services if you or your child:

• Has a seizure for the first time
• Gets injured
• Has trouble eating or swallowing

Your provider can also help you plan for the future. They may talk with you about creating an advance directive. This is a legal document that shares your wishes for medical care if you’re ever unable to speak for yourself.

How does Huntington’s disease progress?

Huntington’s disease slowly gets worse over time. The speed and order of symptoms can be different for everyone, but the condition usually moves through three main stages:

• Early stage: Symptoms are mild. You might feel more moody, clumsy, or have trouble focusing or planning. You may also have small, uncontrollable movements, but typically, you can continue your everyday activities.
• Middle stage: Physical and mental changes make working, driving and household chores very difficult. You may have trouble swallowing. This can make speaking and eating meals challenging, but not impossible. Your balance may be off. This increases your risk of falling. You may be able to take care of yourself with some help.
• End stage: At this stage, you’ll likely need full-time care. It’ll be difficult to move around or get out of bed without help. You’ll need assistance when eating, bathing or doing other personal care tasks.

Your care team will support you and your family through each stage. They can help you manage symptoms and maintain comfort and safety.

Huntington’s disease life expectancy

People with Huntington’s disease usually live about 15 to 20 years after symptoms begin.

The disease itself isn’t directly fatal. But it causes changes that make daily activities harder over time. How fast it progresses is different for everyone.

Most deaths happen because of complications, like infections (especially pneumonia) or injuries from falls. Regular care and support can help manage symptoms and lower these risks.