Integrated diagnostic approach of pediatric neuromuscular disorders.
- Author:
Ha Neul LEE
1
;
Young Mock LEE
Author Information
- Publication Type:Review
- Keywords: Pediatrics; Neuromuscular diseases; Phenotype; Molecular diagnostic techniques
- MeSH: Diagnosis; Genetic Counseling; Genetic Heterogeneity; Genetic Testing; Humans; Molecular Biology; Molecular Diagnostic Techniques; Neuromuscular Diseases; Pediatrics; Phenotype
- From:Journal of Genetic Medicine 2018;15(2):55-63
- CountryRepublic of Korea
- Language:English
- Abstract: Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.
