Clinical and molecular diagnosis of spinal muscular atrophy

Neurol India. 2002 Jun;50(2):117-22.

Abstract

The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA.

Publication types

  • Review

MeSH terms

  • Genetic Carrier Screening
  • Genetic Techniques*
  • Humans
  • Prenatal Diagnosis
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / genetics*