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Lookup NU author(s): Robert Muni Lofra, Holly Borland, Jassi Michell-Sodhi, Aleks Carver, Elena Karkkainen, Jess Page, Professor Chiara Marini Bettolo
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
© Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ Group. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: https://creativecommons.org/licenses/by-nc/4.0/.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.
Author(s): Muni-Lofra R, Borland H, Nevin K, Rutherford A, Dungavel A, Michell-Sodhi J, Chatfield S, Pape K, Rose A, Fenty P, Martin G, Narayan S, Bartram E, Emery N, Marco MD, Manchester E, White N, Tomos H, Davies E, Morris F, Carver A, Karkkainen E, Page J, Norwood F, Davis H, Walters RJ, Dougan CF, Shanmugarajah PD, Farrugia ME, Willis TA, Brady S, Kiss-Csenki A, Merrison A, Sedehizadeh S, Brierley C, Davies NP, Galtrey CM, Parton M, Lilleker JB, Hewamadduma C, Bettolo CM
Publication type: Article
Publication status: Published
Journal: BMJ Neurology Open
Year: 2026
Volume: 8
Issue: 1
Online publication date: 23/06/2026
Acceptance date: 26/05/2026
Date deposited: 16/07/2026
ISSN (electronic): 2632-6140
Publisher: BMJ Publishing Group
URL: https://doi.org/10.1136/ bmjno-2025-001545
DOI: 10.1136/bmjno-2025-001545
Data Access Statement: Data are available on reasonable request.
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