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Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by progressive degeneration of spinal cord and brainstem motor neurons caused by homozygous deletions in the survival motor neuron (SMN1) gene resulting in loss of SMN protein.1 Patients with SMA type 1 present before 6 months, never sit independently, and have an 8% survival rate at 20 months.2 The disease is modified by the homologous SMN2 gene copy number such that increasing copy numbers are associated with a milder phenotype.3
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Editorial, page 613
Class of Evidence: NPub.org/coe
Podcast: NPub.org/c0jn1l
- Received March 18, 2019.
- Accepted in final form June 26, 2019.
- © 2019 American Academy of Neurology
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