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Neuropediatrics 1991; 22(1): 45-46
DOI: 10.1055/s-2008-1071415
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Acute Onset Spinal Muscular Atrophy in Siblings

S. A. Robb1 , M. A. McShane , J.  Wilson , J.  Payan
  • Department of Neurology, Hospital for Sick Children, Great Ormond St., London WC1N 3JH, England
  • 1Present address: The Newcomen Centre, Guy's Hospital, St. Thomas Street, London SE1 9RT, England
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Publication History

Publication Date:
19 March 2008 (online)

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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

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