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.
Introduction
Pediatric Neuromuscular Disorders
Importance of Establishing the Right Diagnosis
Difficulty in Diagnostic Approach
Phenotype-down Diagnostic Approach
New Era of Molecular Genetic Testing and Integrated Diagnostic Approach
Clinical Phenotype and Diagnostic Evaluations in the Most Common Forms of Pediatric Neuromuscular Disorders
Conclusion