title: Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.
abstract: Four members of a family with scapuloperoneal syndrome were examined and investigated. The pattern of inheritance was autosomal dominant and the myopathic basis of the muscle atrophy was established by histological studies of muscle and spinal cord. The family illustrates an unusual combination of features which appear to be distinct from those of other families with myopathic scapuloperoneal syndrome and autosomal dominant inheritance. These include early age of onset and rapid progression in most cases; occurrence of early muscle contractures; and a high incidence of severe cardiomyopathy in three of the four cases. Some of these features resemble those seen in the x-linked form of the disease and the present family appeared to be a new variant of the autosomal dominant form of the scapuloperoneal syndrome.
mesh_terms: D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003286:Contracture / Q000235:genetics; D004562:Electrocardiography; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007866:Leg / Q000294:innervation; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010543:Peroneal Nerve / Q000503:physiopathology; D012540:Scapula / Q000294:innervation