Huntington’s disease (HD)
What is Huntington’s disease?
Huntington’s disease (HD) is a rare, inherited condition that affects the brain and nervous system. Over time, nerve cells in the brain break down and die, resulting in uncontrolled movements. HD is sometimes called Huntington’s chorea. Chorea is the medical term for the sudden, unpredictable, jerky movements that happen with this movement disorder.
Penn Medicine’s Movement Disorders Center is Huntington’s Disease Society of America (HSDA) Center of Excellence. This recognition is given to centers that use a collaborative, team-based approach to care. Our movement disorders care experts partner with you and your family to provide ongoing monitoring and support at every stage of care.
How Huntington’s disease affects the body
The first Huntington’s disease symptom to appear is typically chorea. These involuntary movements usually affect the hands and face first, followed by the limbs and torso. As the disease progresses, chorea can significantly impact the ability to drive, eat, speak, walk, and perform daily self-care.
All symptoms of HD are progressive, meaning that they get worse over time. Other symptoms include:
- Difficulty speaking or swallowing
- Changes in mood or personality, like irritability or depression
- Seeing or hearing things that aren't there (hallucinations)
- Stiff muscles and trouble with balance
- Problems with balance and posture
- Memory loss or trouble focusing on tasks
Why Huntington’s disease happens
Huntington’s disease is caused by a genetic variant of the HTT gene that is passed down through families. Only one parent needs to carry the abnormal gene to pass it down to a child. Each child born of that parent has a 50 percent chance of inheriting the condition.
In very rare cases, some people with HD do not have parents with the condition.
How Huntington’s disease is diagnosed
A family history of Huntington’s disease is often the strongest clue for diagnosis. A neurologist will review your personal and family medical history and perform a detailed physical and neurological exam. Your care team may also recommend genetic testing, even before symptoms appear, especially for people with a known family history. Genetic counselors help explain testing options, possible results, and what they may mean for you and your family.
Managing Huntington's disease symptoms
There is no cure for HD, but treatments may lessen symptoms and help manage disease progression.
There are no medications currently available to cure or slow down progression of HD. Several medications can help control disease symptoms, such as chorea or psychiatric disorders that may develop in the later stages of the disease.
- Antichorea medications suppress the involuntary jerking motions that occur with HD.
- Antidepressants help decrease depression.
- Antipsychotic medications reduce irritability, agitation, and hallucinations.
- Mood stabilizers help to stabilize the high and low moods associated with bipolar disorder.
HD is a progressive disorder that increasingly interferes with movement and daily activities. As the condition progresses, individuals require more supervision and care. Palliative care provides symptom management, pain relief, and support for people with HD and their families.
Rehabilitative therapies may help people with HD manage physical and emotional symptoms.
- Physical therapy provides specific exercises to improve strength, balance, flexibility, and muscle coordination. These exercises can help maintain independent mobility and reduce the risk of falls. Physical therapists can also teach you how to use assistive devices, such as a walker or wheelchair, for mobility.
- Occupational therapy can train people with HD and their family members how to use assistive devices to maintain independence with daily activities, such as eating, dressing, and bathing.
- Speech therapy provides exercises to improve speaking and swallowing. Speech therapists can also teach people with HD to use devices to aid communication.
- Psychotherapy helps people with HD manage emotional and behavioral aspects of the condition. It can help individuals with HD and their families develop coping skills and provide necessary support.
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