Huntington’s disease, also known as Huntington’s chorea, is a hereditary disease of the brain that is still incurable today. The disease typically manifests itself through otien involuntary and uncoordinated movements. At the same time, however, there is ﬂaccid muscle tone. Older names for the disease are chorea major, great St. Vitus‘ dance or simply St. Vitus‘ dance.
In German-speaking countries, the disease is otien abbreviated to HD. HD stands for Huntington’s
Those aﬀected by the disease suﬀer from the progressive destruction of a region of the brain that is very important for muscle control and fundamental mental functions. This area is the striatum.
In this area, brain cells are destroyed by defective proteins. These proteins are produced by a defect in the Huntington’s gene.
The external symptoms of the disease include emotional disturbances and muscle control, including facial expressions, as well as brain function. In the ﬁnal stage, the disease can lead to dementia. The fact that facial expressions are otien aﬀected otien means that the progression of the disease in the external symptoms is much more advanced than is the case.
Huntington’s disease usually leads to the ﬁrst symptoms of the disease around the age of 40. These are movement disorders and psychological symptoms. The disease is inherited in an autosomal dominant manner and is a neurodegenerative disease.
Atier the ﬁrst symptoms, Huntington’s disease always takes a severe course and leads to death atier 15 years on average. With a few exceptions, all carriers of the trait develop the disease sooner or later. Complete penetrance. The allele that causes the disease has been detectable on the short arm of the fourth chromosome since 1993. Even in the unborn child by amniocentesis or chorionic villus sampling.