Spinal muscular atrophy

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

Research output: Contribution to journalArticle

37 Citations (Scopus)

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
StatePublished - Jan 2004

Fingerprint

Spinal Muscular Atrophy
Inborn Genetic Diseases
Live Birth
Motor Neurons
Lung Diseases
Rehabilitation
Quality of Life
Clinical Trials
Mortality
Proteins
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

Cite this

Iannaccone, S. T., Smith, S. A., & Simard, L. R. (2004). Spinal muscular atrophy. Current Neurology and Neuroscience Reports, 4(1), 74-80.

Spinal muscular atrophy. / Iannaccone, Susan T.; Smith, Stephen A.; Simard, Louise R.

In: Current Neurology and Neuroscience Reports, Vol. 4, No. 1, 01.2004, p. 74-80.

Research output: Contribution to journalArticle

Iannaccone, ST, Smith, SA & Simard, LR 2004, 'Spinal muscular atrophy', Current Neurology and Neuroscience Reports, vol. 4, no. 1, pp. 74-80.
Iannaccone, Susan T. ; Smith, Stephen A. ; Simard, Louise R. / Spinal muscular atrophy. In: Current Neurology and Neuroscience Reports. 2004 ; Vol. 4, No. 1. pp. 74-80.
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