A Case of McArdle's Disease

J Korean Neurol Assoc > Volume 10(4); 1992 > Article

Journal of the Korean Neurological Association 1992;10(4): 554-558.

McArdle씨병 1예

이상익, 송창원,박규현,김상욱

부산대학교 신경과.

A Case of McArdle's Disease

Sang-Ik Lee, M.D., Chang-Won Song, M.D., Kyu-Hyun Park, M.D., Sang-Wook Kim, M.D.

Department of Neurology, College of Medicine, Pusan National University

Abstract

McArdle's disease is a disorder of carbohydrate metabolism, which is inhented as an autosomal recessive or occasionally an autosomal dominant trait. Hallmark of clinical features is exercise intolerence, I.e. muscle pain following strenuous exercise. Electrophysiologically insertion of an EMG needle shows that there is no electrical activity, differentiating this contracture from a muscle cramp. Histological examination of muscle biopsy specimen shows increase in glycogen and the presence of subsarcolemrnal blebs. We report a 23-year-old, male patient who presented clinical, electrophysiological, and histological findings compatible with McArdle's disease.