Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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소아 근육병의 진단과 치료

Neuromuscular disorders in children : Diagnosis and treatment

  • 채종희 (서울대학교 의과대학 소아과학교실)
  • Chae, Jong Hee (Department of Pediatrics, College of Medicine, Seoul National University)
  • 투고 : 2008.11.07
  • 심사 : 2008.11.14
  • 발행 : 2008.12.15
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초록

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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참고문헌

  1. Guglieri M, Straub V, Bushby K and Lochmuller H. Limbgirdle muscular dystrophies. Curr Op Neurol 2008;21:576-84 https://doi.org/10.1097/WCO.0b013e32830efdc2
  2. Jackson CE. A clinical approach to muscle diseases. Semin Neurol 2008;28:228-40
  3. Straub V and Bushby K. The Childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol 2006;13:104-14
  4. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18:34-44 https://doi.org/10.1016/j.nmd.2007.08.009
  5. Cardamone M, Darras BT, Ryan M. Inherited myopathies and muscular dystrophies. Semin Neurol 2008;28:205-9
  6. Muntoni F and Wells D. Genetic treatments in muscular dystrophies. Curr Opin Neurol 2007;20:590-4 https://doi.org/10.1097/WCO.0b013e3282efc157

피인용 문헌

  1. Sensitiv ImagoTM, 양도락을 이용한 Duchenne Muscular Dystrophy 환아 1례의 검사 결과 보고 vol.28, pp.3, 2014, https://doi.org/10.7778/jpkm.2014.28.3.074