Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease

Summary The first German family with autosomal dominant Emery-Dreifuss syndrome (EDS) is described, with electrophysiologic and myopathologic results providing evidence of a primary neurogenic disease. According to classification of the scapulo peroneal syndrome without cardiomyopathy, we conclude that there are two variants of EDS: one myopathic, the other neurogenic in origin. Therefore, the term Emery-Dreifuss muscular dystrophy should be avoided. Instead, each case of EDS should be classified as myopathic or neurogenic with X chromosome recessive or autosomal dominant inheritance.The results of this study were presented in part at the 8th international congress of electromyography and related neurophysiology, Sorrento, Italy 1987