Background: Nusinersen and risdiplam are FDA approved treatments for spinal muscular atrophy (SMA), studies have shown motor benefits and variable benefits in respiratory and Oro bulbar functions. SMA predominantly affects motor function and subsequently affects mechanics of respiration, dietary and muscle tone consequent to muscle atrophy. Here we observed four patients with SMA type 3 and one patient with SMA type 2 receiving either nusinersen or risdiplam. We compared their motor function, respiratory function, and Oro bulbar functions.
Objectives/Methods: Compare the motor, respiratory and oro bulbar functions in patients receiving either nusinersen or risdiplam. This is retrospective chart review of patients with diagnosis of SMA receiving either Nusinersen and or risdiplam.
Results: A total of five patients had the diagnosis of SMA, one patient with SMA type 2 and four patients with SMA type III. Two patients were on treatment with risdiplam mono-therapy, and three patients were on Nusinersen mono-therapy. Motor function was assessed using revised hammersmith scale, respiratory functions were assessed rom spirometry results and speech and swallow evaluation assessment by speech language specialist. Two patients lost for follow-up. We noted that one patient on risdiplam had stable motor, respiratory and Oro bulbar functions. Three patients on nusinersen monotherapy showed improvement in all three domains of motor, respiratory and Oro bulbar function.
Conclusion: SMA patients on nusinersen monotherapy showed improvement in motor function, respiratory and swallowing functions. One patient on risdiplam had stable function if not improvement. Nusinersen and risdiplam therapy had beneficial effects on motor, respiratory and speech components. These findings will help us formulate a treatment protocol and design prospective studies.