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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

CARSTEN, Ana Lucila Moreira; LORENZONI, Paulo José; SCOLA, Rosana Herminia  and  WERNECK, Lineu César. Emery-Dreifuss muscular dystrophy: case report. Arq. Neuro-Psiquiatr. [online]. 2006, vol.64, n.2a, pp.314-317. ISSN 0004-282X.  http://dx.doi.org/10.1590/S0004-282X2006000200027.

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.

Keywords : muscular dystrophy; Emery-Dreifuss type; emerin; cardiac conduction defects; contractures.

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