A Case of Fukuyama Congenital Muscular Dystrophy.
- Author:
June HUH
1
;
Ki Joong KIM
;
Tae Sung KO
;
Dong Wook KIM
;
Se Hee HWANG
;
Yong Seung HWANG
;
In One KIM
;
Je Geun CHI
Author Information
1. Department of Pediatrics, College of Medicine, Seoul National University.
- Publication Type:Original Article
- MeSH:
Ankle Joint;
Biopsy;
Brain;
Contracture;
Female;
Humans;
Infant;
Intellectual Disability;
Korea;
Magnetic Resonance Imaging;
Muscle Hypotonia;
Muscle Weakness;
Muscular Dystrophies;
Parturition;
Walker-Warburg Syndrome*
- From:Journal of the Korean Neurological Association
1992;10(3):388-394
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Fukuyama congenital muscular dystrophy, first described by Fukuyama et al. In 1960, is an autosomal recessively inherited muscular dystrophy associated with severe mental retardation. We experienced a case of Fukuyama congenital muscular dystrophy in a 4 year and 11 month old girl, who showed hypotonia at birth, muscle weakness, contractures of both ankle joints, severe mental retardation, elevated muscle enzymes, myopathic EMG findings, dystrophic features on muscle biopsy, and agyria-pachygyria complex with heterotopia of gray matter on brain MRI. To our knowledge, Fukuyama congenital musclar dystrophy has not yet been reported in Korea.
