Newborn screening for spinal muscular atrophy

Spinal muscular atrophy (SMA) is a serious neuromuscular disorder characterised by motor neuron degeneration.1 About 95% of cases of SMA involve homozygous deletion of the survival motor neuron 1 (SMN1) gene. SMA has long been considered an incurable disease because of the scarcity of effective treatments. However, three new effective drugs against SMA are now available: nusinersen, onasemnogene abeparvovec, and risdiplam.2 These drugs give better results if treatment is started early, before symptoms appear.