Autosomal Dominant Humeroperoneal Myopathy

Abstract

• Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: (1) early and unusual contractures; (2) humeroperoneal muscle wasting; (3) the slow progression of weakness, beginning in childhood; (4) cardiac conduction defects; and (5) X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression.