Familial essential ("benign") chorea.

Autor: Bird, T D, Carlson, C B, Hall, J G
Zdroj: Journal of Medical Genetics; Oct1976, Vol. 13 Issue 5, p357-362, 6p, 1 Diagram, 1 Chart
Abstrakt: A family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over four generations. A few families with an apparently similar disorder have been reported previously. This condition is characterized by early childhood onset of chorea which is not progressive and is compatible with a long life. It is not associated with dementia, seizures, rigidity, or ataxia. It is a socially embarrassing condition and may, sometimes, be associated with behavioural problems and learning difficulties. For genetic counselling, it is important to distinguish this disorder from Huntington's disease and other hereditary disorders associated with chorea. [ABSTRACT FROM PUBLISHER]
Databáze: Complementary Index