Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant

Pediatr Pulmonol. 2011 Aug;46(8):817-9. doi: 10.1002/ppul.21419. Epub 2011 Feb 28.


Spinal muscular atrophy with respiratory distress (SMARD1) is a rare autosomal recessive disease that is caused by mutations in the gene encoding for immunoglobulin µ-binding protein 2. Unlike the relatively more common spinal muscular atrophy, patients with SMARD1 have respiratory distress prior to manifestation of distal muscle weakness making the diagnosis a challenge. Because respiratory distress is a hallmark feature of this disease, pediatric pulmonologists should recognize its features, and consider it as a diagnostic entity.

Publication types

  • Case Reports

MeSH terms

  • Diaphragm / innervation
  • Diaphragm / physiopathology
  • Humans
  • Infant
  • Male
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics
  • Mutation
  • Respiration / genetics
  • Respiratory Distress Syndrome, Newborn / diagnosis*
  • Respiratory Distress Syndrome, Newborn / genetics
  • Respiratory Insufficiency / diagnosis*
  • Respiratory Insufficiency / genetics
  • Respiratory Paralysis / genetics

Supplementary concepts

  • Spinal muscular atrophy with respiratory distress 1