Congenital muscular dystrophy presenting with respiratory failure

Dev Med Child Neurol. 1992 Mar;34(3):262-5. doi: 10.1111/j.1469-8749.1992.tb15001.x.

Abstract

Respiratory failure is an unusual initial manifestation of congenital muscular dystrophy. The authors describe a case of congenital muscular dystrophy in a patient presenting with rhabdomyolysis at birth. Despite an initially poor prognosis, aggressive respiratory therapy during the neonatal period permitted normal subsequent development. The muscular dystrophy predominantly involved the respiratory muscles.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child, Preschool
  • Humans
  • Male
  • Microscopy, Electron
  • Motor Skills / physiology
  • Muscles / pathology
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / pathology
  • Respiratory Insufficiency / diagnosis*
  • Respiratory Insufficiency / pathology
  • Rhabdomyolysis / diagnosis
  • Rhabdomyolysis / pathology