Spinal muscular atrophy

Journal of Inherited Metabolic Disease volume 22, pages545–554(1999)Cite this article

Abstract

Spinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene conversion. The severity of muscle weakness correlates with the amount of full-length SMN protein produced. Molecular genetic studies support a model in which patients are compound heterozygotes of deleted and converted alleles that predicts a progressively decreasing amount of protein product with severity of muscle weakness. The function of SMN is beginning to be understood and it appears to be involved in ribonucleoprotein biogenesis and thus indirectly in post-transcriptional processing of mRNA. There are theoretical grounds for motor neurons having a cell-specific vulnerability to disturbances of mRNA processing and transport and these are briefly reviewed.

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  1. Department of Neurology, Radcliffe Infirmary, Woodstock Road, Oxford, OX2 6HE, UK

    K. Talbot

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Talbot, K. Spinal muscular atrophy. J Inherit Metab Dis 22, 545–554 (1999). https://doi.org/10.1023/A:1005516625866

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Keywords

  • Motor Neuron
  • Spinal Muscular Atrophy
  • Motor Neuron Disease
  • Survival Motor Neurone
  • Lower Motor Neuron