A Family of Facioscapulohumeral Muscular Dystrophy.
- Author:
Young Hwan CHOI
1
;
Youn Keun HWANG
;
Young Ik SEO
;
Moon Soo KANG
;
Hang Jae KIM
;
Nung Soo KIM
;
Chung Kyu SUH
;
Je Geun CHI
Author Information
1. Department of Neurology, College of Medicine.
- Publication Type:Case Report
- MeSH:
Dyspnea;
Facial Muscles;
Fathers;
Humans;
Inheritance Patterns;
Muscles;
Muscular Dystrophies;
Muscular Dystrophy, Facioscapulohumeral*;
Nuclear Family;
Scapula;
Shoulder
- From:Journal of the Korean Neurological Association
1993;11(1):121-126
- CountryRepublic of Korea
- Language:Korean
-
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.
