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Neuromuscular disorders in children : Diagnosis and treatment

Korean Journal of Pediatrics 2008;51(12):1295-1299.
Published online December 15, 2008.
Neuromuscular disorders in children : Diagnosis and treatment
Jong Hee Chae
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
소아 근육병의 진단과 치료
채종희
서울대학교 의과대학 소아과학교실
Correspondence: 
Jong Hee Chae, Email: chaeped1@snu.ac.kr
Abstract
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.
Key Words: Muscular dystrophy, Diagnosis, Treatment, Children


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