Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome

Abstract

Introduction: Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency. Nusinersen, the first SMN2 pre-mRNA targeted therapy approved by the Food and Drug Administration and the European Medicines Agency, has demonstrated high efficacy in improving motor function, as well as respiratory and nutritional statuses.

Materials and methods: We observed 55 patients (children/adolescents) diagnosed with spinal muscular atrophy (SMA), who received nusinersen therapy. To investigate the benefits of physical therapy on rehabilitation outcomes, we compared the motor evolution of patients who received nusinersen and performed daily physical therapy (study group) to those of the control group, who received only nusinersen therapy.

Results: Motor skill improvements were statistically significantly (p < 0.001) higher in the study group, being almost four times better (12.66%), effect size, in comparison to the control group (3.18%).

Conclusions: Physical therapy has provided superior results for those who receive it on a regular basis. These results include the correction of posture, reduction in stiffness, expansion of the range of motion and strengthening of muscles, thus allowing patients to do more movements and boosting their ability to perform everyday tasks.

Keywords: motor functioning; neuromuscular disorder; nusinersen; physical therapy; spinal muscular atrophy.