Spinal Muscular Atrophy

Semin Pediatr Neurol. 2021 Apr;37:100878. doi: 10.1016/j.spen.2021.100878. Epub 2021 Feb 11.


Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.

Publication types

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

MeSH terms

  • Genetic Therapy*
  • Humans
  • Infant, Newborn
  • Muscular Atrophy, Spinal* / diagnosis
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Neonatal Screening