Neuromuscular disorders in children : Diagnosis and treatment.
10.3345/kjp.2008.51.12.1295
- Author:
Jong Hee CHAE
1
Author Information
1. Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. chaeped1@snu.ac.kr
- Publication Type:Review
- Keywords:
Muscular dystrophy;
Diagnosis;
Treatment;
Children
- MeSH:
Biopsy;
Child;
Electromyography;
Genetic Testing;
Humans;
Muscle Hypotonia;
Muscles;
Muscular Dystrophies;
Neurologic Examination
- From:Korean Journal of Pediatrics
2008;51(12):1295-1299
- CountryRepublic of Korea
- Language:Korean
-
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.
