617-726-5532Our Huntington's Disease Program

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Huntington's disease is a neurological disorder that causes physical, cognitive, and emotional symptoms that can worsen over time. It's caused by a rare genetic mutation. Huntington's disease testing can detect the disease early so you can be proactive about managing symptoms and planning for the future.

Huntington's disease is rare, affecting about five in every 100,000 people in the United States. It is more common in Europe and among Americans of European descent compared to other ethnic groups.

Massachusetts General Hospital's Huntington’s Disease Center of Excellence provides comprehensive care for individuals at every stage of Huntington’s disease, from those at genetic risk with no symptoms to those actively managing symptoms throughout the course of the disease.

We are dedicated to improving quality of life for people at risk, or living with, Huntington’s disease—and for the families that support them. Our team offers guidance through the genetic testing process, manages symptoms with medications and referrals to supportive therapies, and provides ongoing education. We also offer hope through advanced treatments, personalized care plans, and opportunities to participate in research exploring new and innovative therapies.

We are here to support you every stage of the journey—from before symptoms begin through the most advanced stages of Huntington's disease.

What Is Huntington's Disease?

Huntington's disease is a rare genetic condition that affects the brain, causing brain cells to stop working and eventually die. People with Huntington's disease experience a wide variety of symptoms affecting mood, cognitive function, and movements.

The disease is caused by a mutation in the HTT (huntingtin) gene. Huntington’s symptoms typically start between the ages of 30 and 50, although some people develop symptoms before they turn 20, which is known as "early-onset" or "juvenile" Huntington's disease.

Huntington's Disease Symptoms

Symptoms of Huntington's disease can cause a wide range of symptoms because problems in the brain may impact nearly every system in the body. As the disease progresses, affecting more of the brain, patients will experience increasing difficulty with visual perception, swallowing, communication, motor control, sleep, and more. These symptoms can gradually interfere with a person’s ability to remain independent.

Currently, there's no cure for Huntington's and no way to slow its progression. At the moment, treatment for Huntington's disease focuses on managing symptoms to improve quality of life. However, clinical trials are underway to explore therapies that may delay onset or slow the progression of the disease.

What age do symptoms of Huntington's disease start?

Huntington's disease symptoms usually appear for the first time between the ages of 30 and 50.

What are the first signs of Huntington's disease?

If you suspect there's something wrong or if you have a family history of HD, it’s important to speak with your doctor.

Typical first signs of Huntington's include:

  • Difficulty concentrating or focusing
  • Difficulty multi-tasking
  • Memory difficulties
  • Mood changes, such as apathy, low mood, or irritability
  • Increased clumsiness

All these signs can be normal parts of life. For example, it's common to feel irritable during stressful times, so the early signs of Huntington's disease may not seem like symptoms of an illness at first.

As the condition progresses, Huntington's symptoms may change and/or become more pronounced.

Motor symptoms of Huntington's

One of the most distinctive Huntington's symptoms is "Huntington's chorea." These involuntary jerking movements can affect the whole body, especially the arms, legs, and face. People with Huntington's may also experience difficulty performing voluntary movements.

Examples include:

  • Involuntary movements or "chorea"
  • Muscle stiffness
  • Speech problems such as slurred speech
  • Difficulty swallowing
  • Difficulty with eye movements, which can impact coordination and the ability to navigate spaces safely
  • Problems walking or with balance
  • Inability to coordinate motor movements

Cognitive symptoms of Huntington's

In addition to the physical challenges that Huntington's disease presents, people with Huntington's can experience gradual cognitive decline, similar to dementia.

Possible cognitive signs of Huntington's disease include:

  • Difficulty learning new information
  • Difficulty organizing, planning, or making decisions
  • Impaired judgement
  • Impairments in memory
  • Slow thinking and reaction times

Emotional symptoms of Huntington's

Huntington's disease can cause symptoms that affect emotional stability and well-being, such as:

  • Anxiety
  • Depression
  • Mood swings
  • Suicidal ideation
  • Personality changes
  • Anger

Huntington's Disease Causes

Huntington's disease is hereditary. A single gene mutation on the HTT gene causes Huntington's disease.

How is Huntington's disease inherited?

Except for genes on the X and Y sex chromosomes, everyone has two copies of each gene in their DNA—one copy from each parent. That means that everyone has two copies of the HTT gene. Most people have the healthy gene, but you can inherit one copy of the unhealthy mutated gene if either of your parents has Huntington's disease.

Is Huntington's dominant or recessive?

Huntington's disease follows an inheritance pattern called "autosomal dominance," meaning it only takes one copy of the mutation to cause the disease. Most people with Huntington's disease have only one copy of the mutation and have a 50% chance of passing it on to their children.

How Is Huntington's Disease Diagnosed?

Huntington's disease is a hereditary genetic disorder that follows an "autosomal dominance" model of inheritance. This means that if one of your parents has symptoms, you have a 50% chance of inheriting the gene that causes Huntington’s disease. If you inherit just one copy of the gene from your affected parent, you will eventually develop symptoms during your lifetime.

In some cases, there may be no known family history. Early symptoms of Huntington’s disease can resemble those of other conditions, so the diagnosis may not be immediately clear. In these situations, genetic testing can help confirm whether you carry the Huntington’s gene.

Genetic testing can also be done before you show any symptoms. Some choose to get tested to plan for the future, including decisions about career, finances, or family planning. Others may prefer not to know.

Whether or not to pursue genetic testing is a deeply personal decision. If you’re considering it, we encourage you to speak with your neurologist, who can help you understand your options and refer you for genetic counseling if needed.

Huntington's disease testing

To perform the genetic test for Huntington's disease, your healthcare provider will take a blood sample and send it to a specialty lab for testing. The lab will determine whether your DNA carries the Huntington’s disease variant of the HTT gene.

If the Huntington's test is positive, you may wish to discuss if any additional testing might be needed.

Treatments for Huntington's Disease

While there's currently no cure for Huntington's disease or any way to slow its progression, several studies have demonstrated that multidisciplinary care and targeted symptom management can significantly improve quality of life. Seeing a neurologist with experience treating patients with Huntington’s—who understands its complex neurological and emotional impact—can also make a meaningful difference for both patients and families.

Common Huntington's disease therapies include:

  • Medication: Your doctors may prescribe medications to manage symptoms, such as anti-depressants for psychological symptoms or medications that reduce chorea, the uncontrolled movements caused by Huntington's disease.
  • Physical or occupational therapy: An individualized physical therapy program can help you keep better control of your movements and balance. Often, therapists will develop a personalized exercise program that focuses on improving core strength and balance. Occupational therapy can recommend adaptive equipment and perform home safety evaluations to support independence and safety at home.
  • Speech therapy: Speech-language pathologists can help address early cognitive changes and support daily communication and independence. As the disease progresses, therapy may focus on maintaining safe swallowing and finding alternative communication methods.
  • Nutrition support: Unintended weight loss is common in Huntington’s disease and may result from involuntary movements or difficulty swallowing. A nutritionist can help develop a personalized plan to maintain healthy weight and nourishment.
  • Psychological support: Huntington's disease can cause emotional and psychological symptoms such as depression, anxiety, and mood swings. Getting psychological counseling may help you maintain better control of your emotions.
  • Consider participating in research: Huntington’s disease is a rare disorder, and while progress has been made, there is still a lot to learn. By joining research studies or clinical trials, you can contribute to advancing our understanding of the disease.

How close are we to having a cure for Huntington’s disease?

Currently, there's no cure for Huntington's disease. However, clinical trials have shown some promise in interfering with the production of mHTT, the protein produced by the Huntington gene mutation. The timeline to develop a safe, effective treatment based on these experiments is currently unknown but there is hope that an effective treatment may be on the horizon.

FAQs About Huntington's Disease Symptoms and Causes

What is life like for a person with Huntington’s disease?

Everyone’s journey is different. Because HD typically progresses slowly, many people are able to remain active and engaged for years after diagnosis.

Our specialists are here to help people with HD and their families throughout every stage of the journey. This includes helping with future planning early on, managing increasing functional changes as the disease progresses, and providing compassionate care at the end of life, including palliative support when needed.

Living with HD is challenging, but with a strong clinical team and supportive care at home, people with Huntington’s can continue to find purpose, connection, and joy.

How do people deal with Huntington’s disease?

Managing a disease without a cure can be a burden. If you test positive for Huntington's disease, it's helpful to start thinking ahead about how to manage important decisions you'll face in the future.

Some people at risk of Huntington's choose to undergo genetic testing before starting a family. If you test positive but want to have children, assisted reproductive technologies like in vitro fertilization (IVF) with preimplantation genetic testing can help prevent the passing on the disease to children.

If you’ve tested positive or have early symptoms, it can be helpful to plan for future care. This might include preparing a living will, which outlines the medical treatments you would or would not want later in life. You may also choose to give a trusted person power of attorney to manage health care or financial decisions on your behalf if you become unable to do so.

What part of the body does Huntington’s disease affect first?

People experience Huntington's disease differently. However, common early physical signs of Huntington's are increased clumsiness, small involuntary movements, or trouble with fine motor control, such as holding small objects. For others, early signs may be more cognitive or psychological.

How do you care for Huntington’s disease?

If a loved one has received a Huntington's disease diagnosis, you can help them by learning about the disease and anticipating the challenges they're going to face. Ways to help include:

  • Be patient: Many Huntington's symptoms stem from cognitive changes, such as difficulties with attention, decision-making, or executive function, or from behavioral symptoms like apathy or depression. Knowing what to expect can help you respond with greater patience and compassion when your loved one doesn’t seem like their usual self.
  • Consider the house: Consider ways to make the house safer and more comfortable, such as removing tripping hazards or arranging furniture so it's easier to navigate.
  • Make lists: People with Huntington's have trouble organizing their lives, remembering what they need to do, and making good decisions. Making a schedule and preparing checklists can help them retain some independence.
  • Take care of yourself: Caring for a loved one with Huntington's is demanding. Prioritizing your own well-being helps you stay resilient and present for your loved one. Consider joining an Huntington’s disease support group to connect with others who understand what you're going through.