title: Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease?
abstract: Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000150:complications* / Q000503:physiopathology; D004452:Echocardiography; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D006811:Humerus; D007866:Leg; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D014960:X Chromosome