Clinical outcome measures in spinal muscular atrophy

J Child Neurol. 2009 Aug;24(8):968-78. doi: 10.1177/0883073809332702. Epub 2009 Jun 9.

Abstract

Spinal muscular atrophy is one of the most devastating neurological diseases of childhood. Affected infants and children suffer from often severe muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem. Identification of the causative genetic mutation in most cases has resulted in development of potential treatment strategies. To test these new drugs, clinically feasible outcomes are needed. Several different assessments, validated in spinal muscular atrophy or similar disorders, are being used by national and international research groups; however, their sensitivity to detect change is unknown. Acceptance of a few standardized, easily administered, and functionally meaningful outcomes, applicable to the phenotypic spectrum of spinal muscular atrophy, is needed. Consensus is imperative to facilitate collaboration and explore the ability of these measures to identify the therapeutic effect of disease-modifying agents. Following is an evidence-based review of available clinical outcome measures in spinal muscular atrophy.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Evidence-Based Medicine
  • Humans
  • Infant
  • Motor Activity
  • Quality of Life
  • Respiratory Function Tests
  • Severity of Illness Index
  • Spinal Muscular Atrophies of Childhood / physiopathology*
  • Spinal Muscular Atrophies of Childhood / therapy*
  • Treatment Outcome*
  • Young Adult