Long-term follow-up of SMA type 1 treatment with Nusinersen: a single-center experience

Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia, muscle weakness and respiratory involvement. Its most severe form, SMA type 1, starts before 6 months of life and has a high mortality due to ventilatory failure. Nusinersen, the first approved treatment for SMA, is an antisense oligonucleotide for intrathecal use, which leads to greater survival and gain in motor acquisitions. Studies on the safety and efficacy of long-term treatment are still scarce.