Key takeaways
- Huntington’s disease (HD) is a rare inherited neurological disorder caused by a gene mutation on chromosome 4p16.3 that produces toxic proteins, damaging brain cells over time.
- HD causes physical symptoms like chorea (involuntary movements), difficulty swallowing, and balance problems. It can also cause psychiatric symptoms such as depression and irritability, as well as cognitive symptoms like memory loss and confusion.
- HD is currently incurable, but medications such as tetrabenazine (Xenazine) and deutetrabenazine (Austedo) may help manage involuntary movements. Physical, occupational, and speech therapies can help support daily functioning.
Huntington’s disease (HD) is a rare, progressive, inherited neurological condition that occurs when a gene mutation causes toxic proteins to collect in some areas of the brain. It is rare, affecting an estimated
HD was previously known as Huntington’s chorea, with “chorea” referring to the involuntary, dance-like movements that are a common symptom. But it can cause a variety of other symptoms that may affect a person’s movement, behavior, and cognition (thinking ability).
This article discusses the symptoms and causes of HD, as well as ways to manage the symptoms.
HD causes physical, behavioral, and cognitive symptoms that typically begin when people are 30 to 49 years old.
However, around 10% of people with HD develop symptoms before age 20. This is called juvenile Huntington’s disease, and it may progress more quickly.
Another 10% of people develop HD symptoms after age 55.
The types, frequency, and severity of HD symptoms may vary from person to person. For example, some people may experience depression at first, followed by changes in their motor skills, while others may show physical symptoms first.
Physical symptoms
HD may cause symptoms that affect a person’s stature and gait, as well as voluntary and involuntary movements.
Other physical symptoms of HD include:
- difficulty speaking, swallowing, or eating
- weight loss, which may weaken a person’s immune system
- difficulties with walking, such as stumbling or losing balance
- rigidity, which is more common in juvenile HD
Chorea is a characteristic feature of HD but occurs less commonly in children than in adults. Chorea involves uncontrollable, dance-like movements, such as spasms, jerks, and twitches, that may affect any body part.
HD can also cause other movement-related symptoms, such as:
- akinesia
- loss of coordination and control of movements
- seizures, which occur rarely in adults and in 30% to 50% of people with juvenile HD
- unusual eye movements
- dystonia (involuntary muscle contractions)
- Babinski reflex
- clonus
Over time, uncontrollable movements occur more often and usually with more intensity. Eventually, they may become slower as the muscles become more rigid.
Behavioral symptoms
An estimated 40% to 50% of people with HD will develop depression at some point.
Other mental health conditions that may affect people with HD include:
- obsessive-compulsive disorder (OCD)
- mania
- delusional disorders
HD may also cause other behavioral symptoms, such as mood changes, irritability, and impulsivity.
Cognitive symptoms
HD may cause changes in the brain that could affect a person’s emotional and cognitive functions, such as:
- memory loss
- apathy
- hallucinations
- decreased organizational skills
- difficulty focusing, multitasking, or driving
- trouble learning new things
- difficulty making decisions
Cognitive symptoms typically worsen over time and may progress to dementia. Eventually, a person
A large 2022 study in England found that people with HD were 9.2 times more likely to die by suicide than people without the disease.
The Huntington’s Disease Society of America recommends that loved ones and caregivers of people with HD look out for risk factors for suicidal ideation, which may include:
- hopelessness
- withdrawal from family, friends, and activities
- increased irritability
- changes in sleep patterns
- a sudden shift from a depressed mood to happiness
- statements about death or saying goodbye
Help is out there
If you or someone you know is in crisis and considering suicide or self-harm, please seek support:
- Call or text the 988 Lifeline at 988 or chat at 988lifeline.org. Caring counselors are available to listen and provide free and confidential support 24/7.
- Text HOME to the Crisis Text Line at 741741 to connect with a volunteer crisis counselor for free and confidential support 24/7.
- Not in the United States? Find a helpline in your country with Befrienders Worldwide.
- Call 911 or your local emergency services number if you feel safe to do so.
If you’re calling on behalf of someone else, stay with them until help arrives. You may remove weapons or substances that can cause harm if you can do so safely.
If you’re not in the same household, stay on the phone with them until help arrives.
HD is a progressive disease, which means the symptoms become more intense over time. While a person may have few symptoms in the early stages, someone in the later stages may need full-time care.
Many healthcare professionals divide the disease into three stages, according to how significantly it affects a person’s abilities:
- Early stage: A person may experience small changes in movement, coordination, mood, and cognition, but they will likely still be able to complete their daily activities and live on their own.
- Middle stage: A person will experience more significant chorea, mood changes, and difficulties with balance. They may have trouble with mental tasks such as problem-solving and prioritizing. And they may need more help with daily chores and financial management.
- Late stage: Eventually, a person with HD may be unable to walk, speak, or swallow. They may experience severe chorea or other muscle-related conditions such as dystonia and bradykinesia (slow movement). They may need a full-time caregiver.
Some groups break down these stages further by dividing the middle or late stage into two smaller stages. And some describe a “
There is no standard estimate for how long each stage lasts. In adults, the disease generally takes 10 to 30 years to progress from the start of symptoms to the end of life. Juvenile HD progresses more quickly, often within 10 years.
While the currently available treatments for HD can only help manage the symptoms, researchers are studying some medications that show potential for slowing the progression of the disease.
HD results from a gene mutation on chromosome 4p16.3 of huntingtin (HTT).
This mutation is caused by excessive repetition of a sequence of three building blocks of DNA: cytosine, adenine, and guanine (CAG).
Typically, the CAG sequence repeats fewer than 36 times. But in people with HD, it repeats 36 times or more.
This change results in a longer form of the HTT protein, which is then cut into small, harmful cells that bind together. As the toxic protein builds up in the brain, it begins to damage certain brain cells, causing symptoms.
If CAG repeats 36 to 39 times, a person may or may not develop HD, but if it repeats 40 times or more, a person will almost certainly develop the disease.
How is Huntington’s disease passed on?
HD is an autosomal dominant disorder. This means a person may develop it if they inherit one copy of the mutated gene from either parent.
A person with the gene mutation has one typical copy of the gene and one mutated copy. Any offspring will inherit either the typical copy or the mutated one. A child who inherits the typical copy will not develop HD, while a child who inherits the mutated copy will.
Each child has a
A person who does not inherit the mutation will not develop the condition and cannot pass it on to their children.
To diagnose HD, a doctor will perform a physical examination and ask a person about their symptoms and their personal and family medical history.
A combination of physical, behavioral, and cognitive symptoms and confirmed HD in a person’s family is
However, symptoms of HD may be difficult to diagnose if none of the person’s family members have previously received an HD diagnosis.
To rule out other diseases, a doctor may perform further tests, such as:
- Laboratory tests: These may help a doctor rule out conditions that may cause similar symptoms.
- MRI scan: An MRI may help identify changes in the brain’s structure, as it may show signs before clinical manifestations appear.
- Genetic tests: These tests check for CAG repetitions and are the gold standard for HD diagnosis.
If a doctor thinks a person may have HD, they will refer the person to a neurologist.
HD is
Most adults with HD live for 10 to 30 years after a diagnosis, while a person with juvenile HD may live for around 10 years after diagnosis.
Medications
The Food and Drug Administration (FDA) has approved tetrabenazine (Xenazine), deutetrabenazine (Austedo), and valbenazine (Ingrezza) to help treat involuntary movements that may occur in people with HD.
These medications may lead to side effects that could be harmful. If a person experiences symptoms of depression or mood changes when taking these drugs, they should contact a doctor.
Antipsychotic drugs may help control involuntary movements and hallucinations, and antidepressants may help manage depression.
Speech therapy
People with Huntington’s disease may have severe difficulty controlling the muscles of the throat and mouth. As a result, they may have trouble speaking, swallowing, and eating.
Speech therapy may help people improve these skills and reduce the resulting challenges.
A speech therapist could also teach a nonverbal person how to communicate without speaking, such as by using a board that shows images of items and activities in everyday life.
Physical and occupational therapy
A physical therapist may help improve a person’s muscle strength, flexibility, and balance.
They can develop and adjust an exercise plan to meet a person’s changing physical state. They may also advise a person on how to use supportive devices such as a wheelchair or walker.
An occupational therapist may teach a person how to use other supportive devices that can help with daily functioning, such as handrails throughout the home, specialized eating and drinking utensils, and devices that make it easier for the person to shower or dress.
Genetic testing for HD became possible in
If people want to have a child and one parent has the gene mutation, they may
Doctors can also perform genetic testing of the fetus during gestation if there is a family history of the disease. They can do this using a tissue sample from the placenta at 10 to 11 weeks or through an amniocentesis at 14 to 18 weeks.
Huntington’s disease (HD) is a rare, progressive, inherited condition that results from a gene mutation. It causes symptoms that affect movement, behavior, and cognition.
While there is currently no cure for HD, medications and therapies can help people manage the symptoms as the disease progresses.
Anyone with a family history of HD can undergo genetic testing to find out whether they have the genetic mutation and whether any children they may have might inherit it.
