What is Huntington’s Disease?

According to the Genetics Home Reference (GRH) at the US National Library of Medicine (NLM), Huntington’s disease is “a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).” There are several forms of this disorder, including adult-onset Huntington’s disease, the most common form, and juvenile Huntington’s disease, a less common form. Adult-onset Huntington’s disease usually appears in a person’s thirties or forties and can include signs and symptoms such as irritability, depression, small involuntary movements, and trouble making decisions. As the disease progresses, people may have trouble walking, speaking, and swallowing and may also experience changes in their personality and a decline in thinking and reasoning abilities. Juvenile Huntington’s disease begins in childhood or adolescence and it also involves movement problems and mental and emotional changes. Seizures may occur in 30 to 50 percent of children with this condition. Additional signs and symptoms include clumsiness, rigidity, slurred speech, and drooling. School performance also declines as thinking and reasoning abilities may change. Juvenile Huntington disease tends to progress more quickly than the adult-onset form.

Huntington’s disease affects an estimated 3 to 7 per 100,000 people of European ancestry; but it appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. It is an inherited condition and is inherited in an autosomal dominant patter, which means one copy of the altered gene in each cell is enough to cause the disorder. A person with Huntington’s disease usually inherits an altered gene from one affected parent. In rare cases, a person with Huntington disease does not have a parent with the disorder.

Diagnosis of Huntington’s disease is based on a general physical exam, a review of a person’s family medical history, and neurological and psychiatric examinations. Currently, there are no treatments that can alter the course of Huntington’s disease. However, medications can lessen some symptoms of movement and psychiatric disorders and multiple interventions can help a person adapt to changes in their abilities.

Are you a person with Huntington’s disease or family member of someone with Huntington’s disease? There are several organizations that can provide information, support and advocacy that include the Huntington’s Disease Society of America, the Hereditary Disease Foundation, the Huntington Society of Canada, the Family Caregiver Alliance, and the National Organization for Rare Disorders (NORD).

Over the years, NIDILRR has funded projects that research motor disabilities, neurocognitive disabilities, and mobility disabilities. Huntington’s disease could fall under any of these disability types. NARIC’s information specialists searched REHABDATA and found over 200 articles on Huntington’s disease from the NIDILRR community and beyond, including one on talking to children about Huntington’s disease. If you would like to learn more about Huntington’s disease or require additional resources, contact NARIC’s information specialists.