[Adult Spinal Muscular Atrophy]

Abstract

5q spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease affecting 1: 11000 live births and ranging from intrauterine to early adult onset. The course of the disease is progressive, the phenotype varies within a disease continuum and is mainly determined by the SMN2 copy number. So far, three disease modifying treatments (Nusinersen/Spinraza, Onasemnogene abeparvovec/Zolgensma, Risdiplam/Evrysdi) have been approved; however, gene replacement therapy with Onasemnogen abeparvovec is mainly applied from birth to toddler age. SMA treatment requires a multidisciplinary management in specialized neuromuscular centers. Since October 2021, SMA is part of the newborn screening in Germany. When SMA is clinically suspected, timely genetic diagnostics is crucial for a rapid start of treatment, since "time is motor neuron". The different therapeutic options must be discussed with patients and families, and patient expectations must be managed. Assessment of long-term data in disease-specific registries is highly encouraged world-wide and mandatory in Germany.