Spinal muscular atrophy

Semin Pediatr Neurol. 2002 Jun;9(2):145-50. doi: 10.1053/spen.2002.33801.

Abstract

Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far. The last 10 years have seen major advances in the field of SMA, which are starting points towards understanding the SMA pathogenesis and developing therapeutic strategies for this devastating neurodegenerative disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosomes, Human, Pair 5 / genetics
  • Cyclic AMP Response Element-Binding Protein
  • Gene Deletion
  • Humans
  • Muscle, Skeletal / pathology
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Nerve Tissue Proteins / genetics
  • Point Mutation / genetics
  • RNA-Binding Proteins
  • SMN Complex Proteins

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins