Spinal Muscular Atrophy

Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004.


Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene. There is an inverse correlation between SMN2 gene copy number and clinical severity. Clinical management focuses on multidisciplinary care. Preclinical models of SMA have led to an explosion of SMA clinical trials that hold great promise of effective therapy in the future.

Keywords: Motor neuron; SMN1; SMN2; Spinal muscular atrophy; Survival motor neuron gene.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA Copy Number Variations / genetics*
  • Disease Management*
  • Humans
  • Muscular Atrophy, Spinal* / classification
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / mortality
  • Survival of Motor Neuron 1 Protein / genetics*
  • Survival of Motor Neuron 2 Protein / genetics


  • SMN1 protein, human
  • SMN2 protein, human
  • Survival of Motor Neuron 1 Protein
  • Survival of Motor Neuron 2 Protein