A Family of Facioscapulohumeral Muscular Dystrophy

J Korean Neurol Assoc > Volume 11(1); 1993 > Article

Journal of the Korean Neurological Association 1993;11(1): 121-126.

Facioscapulohumeral Muscular Dystrophy 한 가족례

최영환, 황윤근,서영익,강문수,김항재,김능수,서정규,지제근

경북대학교 내과, 신경과. 서울대학교 병리학.

A Family of Facioscapulohumeral Muscular Dystrophy

Young-Hwan Choi, M.D., Youn-Keun Hwang, M.D., Young-Ik Seo, M.D., Moon-Soo Kang, M.D., Hang-Jae Kim, M.D., Nung-Soo Kim, M.D., Chung-Kyu Suh, M.D., Je-Geun Chi, M.D.

Department of Neurology and Internal Medicine, College of Medicine, Department of Neurology and Pathology, College of Medicine Seoul National University

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a genetically trarlsmitted benign muscular dystrophy which has autosomal dominant inheritance pattern. It starts anytime within the first 30 years of life, and usually involves the face and shoulder girdle, and finally the pelvic muscles with very slow progression. Authors-report a fanily consisting of a father, two sons and one daughter, who had suffered from exertional dyspnea, weakness of facial muscle and winged scapulae, all wlth a slow progressive course. Two of these patients were biopsied arld confirmed light microscopically and electron microsopically.