Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy

Abstract

(Abstracted from Genet Med 2020;22:1296–1302) Spinal muscular atrophy (SMA) is a neurodevelopmental disorder that is associated with muscle weakness and atrophy. There are several subtypes that are categorized as SMA type 1 (presenting in early infancy), where infants are unable to sit unassisted; SMA type 2 (presenting between 6 and 18 months of age), where patients are unable to walk independently; SMA type 3 (presenting after 18 months of age), where some patients were able to walk independently, but others lose this ability; and SMA type 4 (presenting in adulthood), which is rare and less severe.