Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Neuromuscular disorders in children : Diagnosis and treatment

소아 근육병의 진단과 치료

  • Chae, Jong Hee (Department of Pediatrics, College of Medicine, Seoul National University)
  • 채종희 (서울대학교 의과대학 소아과학교실)
  • Received : 2008.11.07
  • Accepted : 2008.11.14
  • Published : 2008.12.15
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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.

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References

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