Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

Neuromuscul Disord. 2015 Feb;25(2):169-71. doi: 10.1016/j.nmd.2014.10.005. Epub 2014 Oct 22.

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited neuromuscular condition resulting from recessive mutations in the immunoglobulin mu-binding protein (IGHMBP2) gene. Affected individuals characteristically present in infancy with progressive distal weakness and respiratory distress secondary to diaphragmatic weakness. Considerable clinical heterogeneity has been described both in its presentation and phenotype in childhood; however little data pertaining to phenotype in adulthood have been reported to date. This report describes a 21 year old woman with genetically confirmed SMARD1 who has stable muscle weakness, normal cognitive abilities and is able to lead a socially integrated lifestyle, using mechanical ventilation only overnight. This report adds new evidence for clinical variability throughout the course of SMARD1.

Keywords: Distal neuropathy; IGHMBP2; Respiratory distress; SMARD1; Spinal muscular atrophy with respiratory distress.

Publication types

  • Case Reports

MeSH terms

  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Muscular Atrophy, Spinal / genetics*
  • Mutation / genetics
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • DNA-Binding Proteins
  • IGHMBP2 protein, human
  • Transcription Factors

Supplementary concepts

  • Spinal muscular atrophy with respiratory distress 1