Diagnostic Testing for Patients with Spinal Muscular Atrophy

Clin Lab Med. 2020 Sep;40(3):357-367. doi: 10.1016/j.cll.2020.05.005. Epub 2020 Jul 2.

Abstract

Diagnostic genetic testing for spinal muscular atrophy is key in establishing early diagnosis for affected individuals. Prenatal carrier testing of parents with subsequent testing of the fetus for homozygous SMN1 gene deletion in those at risk of this autosomal recessive disorder as well as newborn screening can identify the vast majority of affected individuals before the onset of symptoms. Patients presenting symptomatically must be genetically confirmed as soon as possible because targeted treatments are now available that profoundly impact symptoms and improve quality of life.

Keywords: Newborn screening; SMN1; SMN2; Spinal muscular atrophy; Survival motor neuron.

Publication types

  • Review

MeSH terms

  • Adult
  • Genetic Testing*
  • Humans
  • Infant
  • Infant, Newborn
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / physiopathology
  • Neonatal Screening*
  • Prenatal Diagnosis
  • Survival of Motor Neuron 1 Protein / genetics
  • Survival of Motor Neuron 2 Protein / genetics
  • Young Adult

Substances

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