Comparison of the disease course of two patients with SMARD1

Abstract

Introduction: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder which results from mutations in the gene encoding immunoglobulin mu binding protein 2 (IGHMBP2). Initial symptoms include intrauterine growth retardation, weak cry and foot deformities. Respiratory distress and progressive muscle weakness with distal lower limb muscle involvement follow usually between the age of 1 to 6 months. Nevertheless, a wide variability in the disease course can be noticed in SMARD1 patients.