title: [Emery-Dreifuss disease or syndrome of amyotrophy with early contractures and secondary disorders of cardiac conduction with variable heredity].
abstract: Emery-Dreifuss myopathy is characterized by the association of early muscle contractures, atrophy predominant on the scapulohumeroperoneal muscles, secondary cardiac conduction anomalies and an X-linked heredity. The case presented here had features corresponding to these criteria except in two respects: the patient was a female, and transmission was of the dominant autosomal type. Three similar families have been reported. This genetic heterogeneity together with doubt as to the exact nature of muscle anomalies, suggests that the syndrome should be termed amyotrophy syndrome with early contractures and secondary cardiac conduction abnormalities with a variable heredity.
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D002875:Chromosomes; D003286:Contracture / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
vernacular_title: Maladie d'Emery-Dreifuss ou syndrome d'amyotrophie avec rétractions précoces et troubles secondaires de la conduction cardiaque d'hérédité variable.