Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468.
No abstract available

Publication types

  • Letter

MeSH terms

  • Consensus
  • Genetic Testing
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening*
  • Practice Guidelines as Topic / standards*
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / therapy*
  • Survival of Motor Neuron 2 Protein / genetics

Substances

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