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Integrated diagnostic approach of pediatric neuromuscular disorders
J Genet Med 2018;15:55-63
Published online December 31, 2018;  https://doi.org/10.5734/JGM.2018.15.2.55
© 2018 Korean Society of Medical Genetics and Genomics.

Ha Neul Lee and Young-Mock Lee*

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
Young-Mock Lee, M.D., Ph.D. http://orcid.org/0000-0002-5838-249X
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea.
Tel: +82-2-2019-3354, Fax: +82-2-3461-9473, E-mail: ymleemd@yuhs.ac
Received May 24, 2018; Revised November 10, 2018; Accepted November 12, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Pediatrics, Neuromuscular diseases, Phenotype, Molecular diagnostic techniques


December 2018, 15 (2)
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