Access to care for adults living with spinal muscular atrophy in the UK.

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from progressive degeneration and loss of motor neurones in the spinal cord. Current standards of care guidelines focus on a multidisciplinary approach and include recommendations for nine different aspects of care. Although intended for use in all patients with SMA, the guidelines are focused on paediatric best practices and evidence regarding care provision in adults with SMA remains limited. This cross-sectional analysis of a longitudinal registry cohort of adults with SMA study aimed to evaluate the clinical features and corresponding care provision to assess alignment with current care guidelines. Data from 426 patients with genetically confirmed SMA were analysed, including information on respiratory function, bulbar involvement, musculoskeletal complications and daily living support. Results demonstrated a high prevalence of respiratory impairment, bulbar dysfunction, contractures and significant limitations in activities of daily living. However, the care provision observed in this adult cohort did not consistently reflect the recommended standards outlined in the established SMA standards of care recommendations. In particular, gaps were noted in access to respiratory support, physiotherapy and nutritional management. These findings suggest that the application of current standards of care to the adult population is inconsistent. There is a need for improved translation of care provision into adult services to ensure comprehensive and equitable management of SMA across the lifespan.