Merosin-deficient congenital muscular dystrophy in Korea.
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, joint contractures, and dystrophic changes in the muscles. Merosin-deficient CMD (MDCMD) is rare in Asian populations, but more common in Caucasians, comprising about 50% of CMDs. We report, for the first time in Korea, eight patients with merosin-deficient CMD, confirmed by immunohistochemical staining of muscle or skin samples. We also describe their wide spectrum of clinical features and neuroimaging findings. Among 35 patients diagnosed as CMD, almost 23% of them were proved to have MDCMD with typical phenotypic presentation. We infer that prevalence of MDCMD in Korea may not be as low as expected. One of the patients was diagnosed by skin biopsy, which is good alternative for diagnosis of MDCMD.
Chae
Jong-Hee
JH
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Lee
Jin Sook
JS
Hwang
Hee
H
Kim
Ki Joong
KJ
Hwang
Yong Seung
YS
Park
June Dong
JD
Cheon
Jung-Eun
JE
Kim
In-One
IO
Choe
Ghee Young
GY
Park
Sung Hye
SH
D000293:Adolescent; D017668:Age of Onset; D001921:Brain / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007723:Korea / Q000453:epidemiology; D007797:Laminin / Q000172:deficiency* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000453:epidemiology / Q000473:pathology*; D009421:Nervous System Malformations / Q000453:epidemiology / Q000473:pathology*; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000209:etiology; D012189:Retrospective Studies; D012867:Skin / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D012868:Skin Abnormalities / Q000453:epidemiology / Q000473:pathology*; D013577:Syndrome
D007797:Laminin