Patient Information: Huntington Disease (2024)

• ¹Fishbein Fellow, JAMA

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Huntington disease is a rare genetic disease that affects movement, thinking, and behavior.

Huntington disease results from an abnormal gene that damages cells in the brain. It is an autosomal dominant genetic disorder, meaning that individuals born to a parent with Huntington disease have a 50% chance of developing the disease. Rarely, patients with Huntington disease have a gene variant that developed spontaneously and was not inherited.

Huntington disease affects about 11 to 14 people per 100 000 individuals in Europe and North America and is less common in Africa and East Asia.

Symptoms of Huntington disease typically first appear between ages 30 and 50 years and include

• Motor function: including involuntary, jerking or writhing, dance-like movements (chorea) of the face, torso, and limbs; involuntary muscle contractions (dystonia); impaired eye movements; and slurred speech

• Thinking: including disturbances in planning, processing speed, memory, and judgment

• Mood: including depression, anxiety, apathy, agitation, and psychosis

Diagnosis of Huntington disease is considered based on family history, symptoms, and physical examination findings. Genetic testing for the gene variant that causes Huntington disease confirms the diagnosis. Imaging of the brain is not necessary to make the diagnosis, but if performed, may show characteristic abnormalities in areas of the brain affected by Huntington disease.

Huntington disease symptoms progressively worsen over many years, with development of dementia, difficulty swallowing, muscle rigidity, imbalance, and falls. At late stages of disease, individuals lose their ability to eat, speak, walk, or care for themselves, and they require full-time care.

There is currently no cure for Huntington disease. Patients with Huntington disease are often treated by a multidisciplinary team, including clinicians who specialize in neurology, speech therapy, occupational therapy, physical therapy, nutrition, and palliative care.

Because Huntington disease is not curable, treatment should focus on maximizing quality of life and treating symptoms. Certain medications may be used to help treat chorea and other types of abnormal movements. Antidepressant, antipsychotic, and stimulant medications may be prescribed for psychiatric symptoms, and emotional counseling may help patients and their caregivers.

Counseling is strongly recommended before and after genetic testing for Huntington disease. Asymptomatic individuals with a family history of Huntington disease may choose to have genetic testing to determine if they carry the gene variant that causes Huntington disease, or they may undergo prenatal testing to determine the likelihood of having a child who inherits the disease.

The JAMA Patient Page is a public service of JAMA. The information and recommendations appearing on this page are appropriate in most instances, but they are not a substitute for medical diagnosis. For specific information concerning your personal medical condition, JAMA suggests that you consult your physician. This page may be downloaded or photocopied noncommercially by physicians and other health care professionals to share with patients. To purchase bulk reprints, email reprints@jamanetwork.com.

Published Online: August 21, 2023. doi:10.1001/jama.2023.13024

Conflict of Interest Disclosures: None reported.

Source: McColgan P, Tabrizi SJ. Huntington’s disease: a clinical review. Eur J Neurol. 2018;25:24-34. doi:10.1111/ene.13413

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Citation

Marcus R. What Is Huntington Disease? JAMA. 2023;330(10):1014. doi:10.1001/jama.2023.13024

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