Spinal muscular atrophy: a clinical and research update

Pediatr Neurol. 2012 Jan;46(1):1-12. doi: 10.1016/j.pediatrneurol.2011.09.001.


Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons associated with progressive muscle weakness and atrophy, is the most common genetic cause of infant mortality. It is caused by decreased levels of the "survival of motor neuron" (SMN) protein. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13. However, unlike many other autosomal recessive diseases, the SMN gene involves a unique structure (an inverted duplication) that presents potential therapeutic targets. Although no effective treatment for spinal muscular atrophy exists, the field of translational research in spinal muscular atrophy is active, and clinical trials are ongoing. Advances in the multidisciplinary supportive care of children with spinal muscular atrophy also offer hope for improved life expectancy and quality of life.

Publication types

  • Review

MeSH terms

  • Biomedical Research*
  • Clinical Trials as Topic*
  • Humans
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / psychology
  • Muscular Atrophy, Spinal* / therapy
  • Quality of Life
  • SMN Complex Proteins / genetics


  • SMN Complex Proteins