Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress

With the exception of infantile spinal muscular atrophy (SMA) and congenital myotonic dystrophy 1 (DM1), myopathies dystrophies with neonatal respiratory distress pose diagnostic challenges. Next-generation sequencing (NGS) provides hope for diagnosis these rare diseases. We evaluated efficiency next-generation in ventilated newborns peripheral hypotonia. compared results our previous study a cohort 19 patients analysed by Sanger from 2007 to 2012, yield 26% (5/19), those new retrospective 28 2018 diagnosed using MyoPanel, neuromuscular disease panel, 43% (12/28 patients). Pathogenic variants were found five genes: ACTA1 (n = 4 patients), RYR1 2), CACNA1S 1), NEB 3), MTM1 2). Myopanel increased diseases, but more than half remained undiagnosed. Whole exome did not seem fully respond this limitation. Therefore, explorations whole genome will be next step.