Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation

Abstract

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the ε-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous. © 2004 Movement Disorder Society.