Spinal muscular atrophy with respiratory distress Type 1: A novel variant of IGHMBP2 gene

Abstract

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. Most of the children die before the age of 13 months. Here, we report a new variant in a female infant with SMARD1 having a novel IGHMBP2 gene mutation. Despite supportive treatment, she died at the age of 5 months in hospital. To the best of our knowledge, the variant has not been described in the literature so far.