[Emery-Dreifuss muscular dystrophy: case report].
The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin. The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for genetic counseling are discussed.
Carsten
Ana Lucila Moreira
AL
Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
Lorenzoni
Paulo José
PJ
Scola
Rosana Herminia
RH
Werneck
Lineu César
LC
D000328:Adult; D015415:Biomarkers / Q000032:analysis; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D004562:Electrocardiography; D006327:Heart Block / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000032:analysis*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009687:Nuclear Proteins / Q000032:analysis*
D015415:Biomarkers; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin; D003402:Creatine Kinase