Spinal Muscular Atrophy with Respiratory Distress Type 1: A Novel Variant of IGHMBP2 Gene.

Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an exceptionally rare type of SMA. It results from disintegration of alpha motor neurons of the spinal cord. Clinically, children affected with this disorder present between the age of six weeks to six months with respiratory distress and hypotonia.