Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report).
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.
Carvalho
A A
AA
Setor de Doenças Neuromusculares, Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Brazil.
Levy
J A
JA
Gutierrez
P S
PS
Marie
S K
SK
Sosa
E A
EA
Scanavaca
M
M
D000328:Adult; D001706:Biopsy; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000473:pathology*