Effect of nusinersen treatment on quality of life and motor function in adult patients with spinal muscular atrophy.

The aim of this study was to assess the effect of 4 loading doses of nusinersen on motor function and quality of life (QoL) in adult patients with spinal muscular atrophy (SMA). Twenty-one adult patients with genetically confirmed SMA who were treated with 4 loading doses of nusinersen were included in this study. All patients were evaluated with the Medical Research Council (MRC) scale, the Hammersmith Functional Motor Scale Expanded (HFMSE), and the Short Form Survey-36 (SF-36) at baseline (V1) and before the first nusinersen maintenance treatment, which was at the 15th month of treatment (V2). The SF-36 score was compared between the patients and 35 age-matched healthy controls. Of the twenty-one patients with a median age of 36 years, 10 were nonambulatory, and 11 were ambulatory. The physical component score and the mental component score of the SF-36 were significantly lower in the SMA patient group at baseline than in the healthy group. The median HFMSE scores significantly improved at V2 in both ambulatory and nonambulatory SMA patients (p < 0.05). The median MRC score significantly increased at V2 in the ambulatory SMA patient group (p = 0.04) but not in the nonambulatory SMA patient group (p = 0.19). There was a significant improvement in physical QoL in all the SMA patients at V2 (p = 0.02), but there was no significant improvement in mental QoL (p = 0.15). The loading nusinersen treatment significantly improved motor function scores, muscle strength, and physical QoL.