Physical and Respiratory Rehabilitation in Spinal Muscular Atrophy: A Critical Narrative Review

Spinal muscular atrophy (SMA) is a genetic disorder causing motor neuron loss and progressive muscle weakness, significantly affecting daily activities and breathing in severe cases. While rehabilitation is a crucial component of SMA management, no standardised rehabilitation guidelines currently exist. This review synthesised physiotherapy and respiratory interventions for SMA patients based on a comprehensive literature search from 1990 to 2024. Eighteen studies were analysed: eleven on physiotherapy and seven on respiratory rehabilitation. Five physiotherapy approaches were reported: electrical stimulation, electrotherapy with cycling, strengthening exercises, aerobic training, and hydrotherapy-based rehabilitation. Respiratory interventions, such as non-invasive ventilation and cough assistance, were mainly studied in SMA Type I, reporting prolonged survival and improved respiratory function. A few studies found that combining pharmacotherapy with intensive physiotherapy led to significantly better motor improvements than drugs alone. Despite these promising reported results, the lack of standardised methodologies and long-term clinical trials prevents definitive conclusions. Research should prioritise randomised controlled trial studies with standardised methodologies and larger sample sizes to investigate the efficacy of physiotherapy and respiratory interventions and, secondly, inform evidence-based rehabilitation protocols and clinical guidelines.