Spinal Muscular Atrophy: The Use of Functional Motor Scales in theEra of Disease-Modifying Treatment

摘要

Spinal muscular atrophy (SMA) is a genetic condition characterized by progressivemotoneuron loss. Infants affected by SMA type 1 do not gain developmentalmilestones and acutely decline, requiring ventilatory support. Several scalesare used to assess motor disability and its progression in SMA. Recently, 3disease-modifying therapies have been approved for SMA patients: nusinersen, anintrathecal antisense oligonucleotide enhancing SMN protein production by theSMN2 gene, risdiplam, also influencing theSMN2 gene to stimulate SMN production but administeredorally, and onasemnogene abeparvovec-xioi, an SMN1 genereplacement therapy. Thus, the functional scales should now be applicable forpatients improving their motor function over time to assess treatment efficacy.In this paper, we compare different functional scales used in SMA patients.Their usefulness in different SMA types, age groups, and feasibility in dailyclinical practice is described below. Some changes in motor function assessmentsin SMA are also suggested.