Spinal muscular atrophy

Susan T. Iannaccone, Stephen A. Smith, Louise R. Simard

Research output: Contribution to journalReview article

38 Scopus citations

Abstract

Spinal muscular atrophy is a common genetic disease of the motor neuron (frequency of eight cases per 100,000 live births) with a high mortality during infancy and no known treatment. Death is caused by severe and progressive restrictive lung disease. New information regarding the nature and function of the SMN protein and the availability of new pharmacologic agents now make it possible to consider clinical trials in this disease. Rehabilitation and proper management of medical complications have improved both the quality and duration of life for children with spinal muscular atrophy.

Original languageEnglish (US)
Pages (from-to)74-80
Number of pages7
JournalCurrent neurology and neuroscience reports
Volume4
Issue number1
DOIs
StatePublished - Jan 2004

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ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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