Glossary of Medical and Health Terms

Huntington's Disease

Huntington's disease (HD), known historically as Huntington's chorea and chorea maior, is a rare inherited neurological disorder affecting up to approximately 1 person per 10,000 people of Western European descent and 1 per 1,000,000 of Asian and African descent. The name is derived from the physician who described it precisely in 1872 (George Huntington). The disorder has been heavily researched in the last few decades and it was one of the first inherited genetic disorders for which an accurate test could be performed.

Huntington's disease is caused by a trinucleotide repeat expansion in the gene coding for Huntingtin protein (Htt) and is one of several polyglutamine diseases. This expansion produces an altered form of the Htt protein, mutant Huntingtin (mHtt), which results in neuronal cell death in select areas of the brain. Huntington's disease itself isn't a terminal illness, but complications caused by it reduce life expectancy.

Huntington's disease's most obvious symptoms are abnormal body movements called chorea and a lack of coordination, but it also affects a number of mental abilities and some aspects of behavior. Physical symptoms occur in a large range of ages, with a mean occurrence in a person's late forties/early fifties. If the age of onset is below 20 years then it is known as Juvenile HD. As there is currently no proven cure, symptoms are managed with various medications and care methods.

Source: http://en.wikipedia.org/wiki/Huntington%27s_disease

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