A Case of Emery-Dreifuss Muscular Dystrophy by Emerin Gene Mutation

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative myopathy characterized by mild, slowly progressing weakness, muscle atrophy, and early contracture of the neck, ankle and elbow. Heart involvement becomes apparent during the teenage years and is characterized by cardiac conduction defects and the infiltration of the myocardium by fibrous and adipose tissues. Heart block can eventually lead to sudden death, and therefore, early treatment with a cardiac pacemaker may improve symptoms and be lifesaving in patients with heart block. We describe our experience of pacemaker implantation in a 14-year old boy with X-linked recessive EDMD and emerin gene mutation. His electrocardiogram findings showed junctional escape beats, and his clinical features, i.e., ECG, nerve conduction test, electromyography and muscle biopsy findings were compatible with EDMD. He was implanted with a VVI type permanent pacemaker following an electrophysiologic study. ( 본 연구진은 lamin 유전자 돌연변이에 의한 EDMD

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

“…Genetic analyses were performed to identify mutations in the LMNA and emerin genes. The genetic analysis of mutations in the lamin gene (EDMD2, LGMD1B) has been reported previously ( 8 ), and parts of clinical findings of case 1 and 2 were described elsewhere ( 9 , 10 ).…”