DISEASES

Disease-gene associations mined from literature

Human genes for Huntington's disease

Huntington's disease [DOID:12858]

Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, and indeed the disease used to be called Huntington's chorea. It is much more common in people of Western European descent than in those of Asian or African ancestry. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin, which means any child of an affected parent has a 50% risk of inheriting the disease. Physical symptoms of Huntington's disease can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. Through genetic anticipation, subsequent progeny may develop the disease earlier in life. About 6% of cases start before the age of 21 years with an akinetic-rigid syndrome; they progress faster and vary slightly. The variant is classified as juvenile, akinetic-rigid or Westphal variant HD.

Synonyms:  Huntington's disease,  DOID:12858,  Huntingtons disease,  Huntington's disorder,  Huntington's syndrome ...

Linkouts:  OMIM #1 #2 #3 #4