Huntington's disease (HD), also known as Huntington's chorea, is an inherited disorder that results in death of brain cells.
The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. As the disease advances, uncoordinated, jerky body movements become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia.
Symptoms usually begin between 30 and 50 years of age, but can start at any age. About 8% of cases start before the age of 20 and typically present with symptoms more similar to Parkinson's disease.
HD is typically inherited from a person's parents, with 10% of cases due to a new mutation. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called huntingtin. This means a child of an affected person typically has a 50% chance of inheriting the disease.
Diagnosis is by genetic testing, which can occur at any point in time, regardless of whether or not symptoms are present.
There is no cure for HD. Full-time care is required in the later stages of the disease. Treatments can relieve some symptoms and, in some, improve quality of life. The best evidence for treatment of the movement problems is with tetrabenazine
The disease affects men and women equally. Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy. Death typically occurs 15 to 20 years from when the disease was first detected.
The first likely description of the disease was in 1841 by Charles Oscar Waters. The condition was described in further detail in 1872 by George Huntington, after whom it is named. The genetic basis was discovered in 1993 by an international collaborative effort led by the Hereditary Disease Foundation.
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Adapted from Wikipedia, the free encyclopedia. Internet. Accessed on March 6, 2016.