Acute Onset Spinal Muscular Atrophy in Siblings

Abstract

We describe two sisters who each presented in infancy with acute, severe, generalised weakness and areflexia 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.

Key words

Spinal muscular atrophy - Electromyography - Anterior horn cell disease