Choreoathetosis, Familial Inverted

Fisher et al. (1979) described a family with a seemingly 'new' form of progressive choreoathetosis. Onset was infantile. The movements predominantly affected the legs and also impaired gait. No dementia, seizures, or rigidity was noted. It was designated 'inverted' because of the predominant involvement of the legs, an unusual feature among the choreas. Four generations, 5 sibships and 10 individuals were affected, with male-to-male transmission. The authors thought that it was distinguishable from benign hereditary chorea by its progressive nature; benign chorea remains static from early childhood and may even improve. In addition, pyramidal tract signs, demonstrated in some cases of the inverted form, have not been observed in benign chorea. In addition to benign hereditary chorea (118700) and Huntington disease (143100), familial choreoathetosis also occurs in a familial paroxysmal form (118800), which may be precipitated by sudden movements, i.e., kinesigenic (128200); with Lesch-Nyhan syndrome (308000); with Wilson disease (277900); with acanthocytosis (200150) and sometimes with familial basal ganglion calcification (114100).