Article
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
Movement disorders : official journal of the Movement Disorder Society - 15 Oct 2008
Koukouni Vasiliki, Valente Enza Maria, Cordivari Carla, Bhatia Kailash P, Quinn Niall P
Abstract excerpt
Inherited myoclonus dystonia (M-D, DYT11) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/(epsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult-onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of...
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