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

Arquivos de Neuro-Psiquiatria

Alzira Alves De Siqueira Carvalho¹  JosÉ Antonio Levy¹  Paulo S. Gutierrez²  Suely Kazue Nagahashi Marie¹  Eduardo Argentino Sosa²  MaurÍcio Scanavaca² 

[1] ,Universidade de São Paulo Faculdade de Medicina Departamento de Neurologia

关键词: muscular dystrophy;    arrhythmia;    muscle;    biopsy;    distrofia muscular;    arritmia;    músculo;    biopsia;   

DOI  :  10.1590/S0004-282X2000000600023

来源: SciELO

【 摘 要 】

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 .

【 授权许可】

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