Korean J Pediatr.
2008 Dec;51(12):1295-1299. 10.3345/kjp.2008.51.12.1295.
Neuromuscular disorders in children : Diagnosis and treatment
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. chaeped1@snu.ac.kr
- KMID: 1494518
- DOI: http://doi.org/10.3345/kjp.2008.51.12.1295
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.
