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

Julie Baughn, William Gershan, Aparna Rao

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)817-819
Number of pages3
JournalPediatric pulmonology
Volume46
Issue number8
DOIs
StatePublished - Aug 2011

Keywords

  • SMA
  • SMARD1
  • hemidiaphragm paralysis
  • immunoglobulin μ-binding protein 2
  • neuromuscular disease
  • respiratory failure
  • stridor

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