Huntington’s disease

Huntington’s disease is a devastating, hereditary, neurodegenerative and neuropsychiatric disorder. The earliest symptoms are often involuntary movements and subtle problems with mood or mental abilities. A general lack of coordination and unsteady movements often follows. Physical and mental abilities decline as the disease advances and full-time care is required in the later stages of the disease. The disease most often becomes noticeable in mid-adult life and affects men and women equally.

The disease stems from genetically-programmed degeneration of brain cells in certain areas of the brain. This degeneration is caused by an autosomal dominant mutation in either of an individual’s two copies of a gene called huntingtin. Huntington’s disease is typically inherited from a person’s parents, with 10% of cases due to a new mutation. It is the most common genetic cause of abnormal involuntary movements called chorea, which is why the disease used to be called Huntington chorea.

There are no current treatment options that control, stop or reverse the progression of the disease. Symptomatic treatments can relieve some symptoms and improve quality of life. Huntington’s disease is a rare disease with a global prevalence of around one in 10,000, and more common in people of European descent than in Asian populations.