Acute onset spinal muscular atrophy in siblings.
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.
Robb
S A
SA
Department of Neurology, Hospital for Sick Children, London, England.
McShane
M A
MA
Wilson
J
J
Payan
J
J
D000208:Acute Disease; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010525:Peripheral Nerves / Q000503:physiopathology; D011930:Reaction Time / Q000502:physiology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology