Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report)

• Autor(a) principal: CARVALHO,ALZIRA ALVES DE SIQUEIRA
• Data de Publicação: 2000
• Outros Autores: LEVY,JOSÉ ANTONIO, GUTIERREZ,PAULO S., MARIE,SUELY KAZUE NAGAHASHI, SOSA,EDUARDO ARGENTINO, SCANAVACA,MAURÍCIO
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000600023
• topic: muscular dystrophy; arrhythmia; muscle; biopsy

We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology .