[Emery-Dreifuss muscular dystrophy: case report].

Abstract

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.

• Authors: Ana Lucila Moreira Carsten, Paulo José Lorenzoni, Rosana Herminia Scola, Lineu César Werneck
• Journal: Arquivos de neuro-psiquiatria (Arq Neuropsiquiatr) Vol. 64 Issue 2A Pg. 314-7 (Jun 2006) ISSN: 0004-282X [Print] Germany
• Vernacular Title: Distrofia muscular de Emery-Dreifuss: relato de caso.
• PMID: 16791377 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Biomarkers
• Membrane Proteins
• Nuclear Proteins
• emerin
• Creatine Kinase

Topics

• Adult
• Biomarkers (analysis)
• Biopsy
• Creatine Kinase (blood)
• Electrocardiography
• Heart Block (diagnosis, etiology)
• Humans
• Immunohistochemistry
• Male
• Membrane Proteins (analysis)
• Muscular Dystrophy, Emery-Dreifuss (complications, diagnosis, genetics)
• Nuclear Proteins (analysis)