Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function

摘要: IntroductionNusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA.MethodsWe conducted a longitudinal retrospective single-center study, including adults (≥18 years) with type 3 SMA under nusinersen for > 22 months. We reported on motor scores and spirometry parameters.ResultsTen patients were included, with a median follow-up of 34 months (range = 22–46). Four patients (40%) were walkers. None used non-invasive ventilation. In Revised Upper Limb Module (RULM) and Expanded Hammersmith Functional Motor Scale (HFMSE), difference of medians increased at 6, 22 and 46 months comparing to baseline (−0.5 vs. + 1.5 vs. + 2.5 in RULM; + 4.0 vs …