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 has high mortality due ventilatory failure. Nusinersen, first approved treatment for SMA, an antisense oligonucleotide intrathecal use, greater survival gain acquisitions. Studies on safety efficacy long-term are still scarce.