A Case of Emery-Dreifuss Muscular Dystrophy by Emerin Gene Mutation.
10.4070/kcj.2003.33.2.143
- Author:
Sang Eok KIM
1
;
Jong Seo HONG
;
Kyoung Ju AHN
;
June Soo KIM
;
Duk Kyung KIM
Author Information
1. Department of Internal Medicine, Han-il General Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Muscular dystrophy, Emery-Dreifuss;
Pacemaker, artificial
- MeSH:
Adolescent;
Ankle;
Atrophy;
Biopsy;
Contracture;
Death, Sudden;
Elbow;
Electrocardiography;
Electromyography;
Heart;
Heart Block;
Humans;
Male;
Muscle Weakness;
Muscular Diseases;
Muscular Dystrophy, Emery-Dreifuss*;
Myocardium;
Neck;
Neural Conduction;
Pacemaker, Artificial;
United Nations
- From:Korean Circulation Journal
2003;33(2):143-149
- CountryRepublic of Korea
- Language:Korean
-
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.
