spinal muscular atrophy

Spinal muscular atrophy is a neurodegenerative disease caused by loss of the SMN1 gene, leading to motor neuron degeneration and progressive muscle weakness, with type 1 historically fatal in early childhood. Three transformative treatments, nusinersen, onasemnogene abeparvovec-xioi, and risdiplam, have revolutionised outcomes for affected children, with newborn screening enabling pre-symptomatic intervention. Long-term outcome data, optimal treatment sequences, and management of adult patients are active clinical questions.