Acute onset spinal muscular atrophy in siblings

Neuropediatrics. 1991 Feb;22(1):45-6. doi: 10.1055/s-2008-1071415.

Abstract

We describe two sisters who each presented in infancy with acute, severe, generalised weakness and are-flexia in association with an intercurrent infection. The clinical picture resembled acute polyneuritis, but EMG findings and the later clinical features were consistent with a diagnosis of spinal muscular atrophy. Although symptoms in SMA may be exacerbated by infection, immunisation or trauma, this unusual presentation of the condition in siblings suggests that this may constitute a genetically distinct subgroup of the disorder.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Child, Preschool
  • Electromyography
  • Female
  • Humans
  • Infant
  • Neural Conduction / physiology
  • Neurologic Examination*
  • Peripheral Nerves / physiopathology
  • Reaction Time / physiology
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Spinal Muscular Atrophies of Childhood / physiopathology