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.