Huntington's Disease (HD)

What is Huntington's Disease?

Huntington’s disease (HD) is a rare, inherited condition of the brain and nervous system. Nerve cells in the brain break down and die, resulting in uncontrolled movements.

HD is also known as Huntington’s chorea. The term “chorea” refers to the unpredictable, quick, jerky movements that happen with this movement disorder.

Huntington’s Disease Symptoms

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, swallowing, or walking
• Emotional mood swings or personality changes (irritability, depression, bipolar disorder)
• Hallucinations
• Muscle stiffness or rigidity
• Problems with balance and posture
• Problems with memory, learning, focus, decision-making, and multitasking

What Causes Huntington’s Disease?

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.

Huntington’s Disease Diagnosis

The biggest sign that you might have HD is a family history of the condition. To diagnose HD, a neurologist (nerve and brain specialist) will ask questions about your personal and family medical history and perform a thorough physical examination.

Genetic Testing

If you have a family history of HD, your doctor may recommend genetic testing even if you don’t have any symptoms. People who might have the condition sometimes choose to have genetic testing before they decide to have children. Other people with HD have genetic testing to confirm a diagnosis once they start to experience symptoms. Genetics counselors will help you understand your risk and whether testing is right for you.

Laboratory Tests and Imaging Studies

Blood tests can help rule out other conditions that might be causing symptoms. Your doctor may also recommend imaging of the brain to look for physical signs of Huntington’s disease:

• Computed tomography (CT) uses X-rays and computer processing to produce detailed images.
• Magnetic resonance imaging (MRI) uses magnetic fields, radio waves, and computer processing to create detailed pictures of the brain.

Neuropsychological Testing

HD can change areas of the brain that affect learning, memory, reasoning, mood, and language. Neuropsychological testing assesses how much HD has affected your mental and emotional status. Results from this testing can help guide future treatments.

Huntington’s Disease Treatment

There is no cure for HD, but treatments may lessen symptoms and help manage disease progression.

Penn Medicine’s Movement Disorders Center is a Huntington’s Disease Society of America (HSDA) Center of Excellence. This recognition is given to centers with a collaborative, multidisciplinary approach to providing the best care for people with Huntington’s disease. The experts in our subspecialty Huntington’s disease clinic provide ongoing support during diagnosis, treatment, and major life transitions for individuals with Huntington’s disease and their families.

Medications for Huntington’s Disease

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.

Rehabilitative Therapies

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.

Palliative Care

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.

Make an Appointment

Please call 800-789-7366 or make an appointment.

Penn Programs & Services for Huntington's Disease (HD)