Clinician Perspectives on Multidisciplinary Care in Spinal Muscular Atrophy: Part 2

Spinal muscular atrophy (SMA), a rare autosomal recessive neuromuscular disorder, is caused by biallelic variants in the survival motor neuron 1 (SMN1) gene. The approval of 3 disease-modifying therapies (DMTs), including nusinersen (Spinraza; Biogen), onasemnogene abeparvovec (Zolgensma; Novartis), and risdiplam (Evrysdi; Roche), together with the adoption of newborn screening, has changed the landscape of care in SMA. Patients identified presymptomatically now can achieve motor milestones that were once out of reach, and children who previously would not have survived infancy are living into adolescence and adulthood.