Spinal muscular atrophy

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

doi:10.1007/s11910-004-0016-6

Spinal muscular atrophy

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

Research output: Contribution to journal › Review article › peer-review

43 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 language	English (US)
Pages (from-to)	74-80
Number of pages	7
Journal	Current neurology and neuroscience reports
Volume	4
Issue number	1
DOIs	https://doi.org/10.1007/s11910-004-0016-6
State	Published - Jan 2004

ASJC Scopus subject areas

General Neuroscience
Clinical Neurology

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title = "Spinal muscular atrophy",

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.",

author = "Iannaccone, {Susan T.} and Smith, {Stephen A.} and Simard, {Louise R.}",

note = "Funding Information: This work was supported by National Institutes of Health grant RO1 NS39327-03 and by a gift from the Muscular Dystrophy Association. Dr. Stephen Smith may be reached at Gillette Children's Specialty Healthcare in Saint Paul, MN. Dr. Louise Simard may be reached at the Centre de Recherche de l{\textquoteright}Hopital Sainte-Justine in Montreal.",

year = "2004",

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doi = "10.1007/s11910-004-0016-6",

language = "English (US)",

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T1 - Spinal muscular atrophy

AU - Iannaccone, Susan T.

AU - Smith, Stephen A.

AU - Simard, Louise R.

N1 - Funding Information: This work was supported by National Institutes of Health grant RO1 NS39327-03 and by a gift from the Muscular Dystrophy Association. Dr. Stephen Smith may be reached at Gillette Children's Specialty Healthcare in Saint Paul, MN. Dr. Louise Simard may be reached at the Centre de Recherche de l’Hopital Sainte-Justine in Montreal.

PY - 2004/1

Y1 - 2004/1

N2 - 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.

AB - 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.

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JO - Current neurology and neuroscience reports

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Spinal muscular atrophy

Abstract

ASJC Scopus subject areas

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