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 |
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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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