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Huntington's Disease

​Huntington's Disease

updated: September 27, 2022

Definition

Huntington’s disease is a rare inherited disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during middle age and may include uncontrolled movements, loss of intellectual abilities and various emotional and psychiatric symptoms. Huntington’s disease is inherited as an autosomal dominant trait, meaning that a single mutated copy of the responsible gene (called HTT) is sufficient to cause the disease.

 Huntington's Disease


Narration

Huntington's disease. Unfortunately, there are no treatments that change the course of Huntington's disease, which is one of progressive deterioration and death. Treatments can, though, improve some of the symptoms and preserve function as long as possible. Children, brothers, and sisters of patients with the disease have on average a 50% chance of developing it, even though they can appear to be completely normal well into middle age. Huntington's was one of the very first diseases to have a genetic test that could predict very accurately whether someone is at risk for the disease because they had a close relative with it and would also be likely to develop it. Geneticists have learned to provide very careful genetic counseling to people seeking this test so they understand the treatment options available to them and the possible effects of learning that they are at high risk for Huntington's disease.

Teri Manolio
Teri Manolio, M.D., Ph.D.

Director

Division of Genomic Medicine