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Lookup NU author(s): Dr Pietro RiguzziORCiD, Emma Grover, Dr Marianela SchiavaORCiD, Meredith JamesORCiD, Professor Giorgio TascaORCiD, Dr John Bourke, Dionne Moat, Dr Maha Elseed, Jassi Michell-Sodhi, Carla Bolaño DiazORCiD, Karen Wong, Dr Ariele Barreto HaagsmaORCiD, Emma Robinson, Dr Tara Reeves, Pete Waldock, Dr Lizzie Harris, Dr Giulio Gadaleta, Robert Muni Lofra, Professor Volker StraubORCiD, Professor Chiara Marini Bettolo, Professor Michela GuglieriORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published by BMJ Group. BACKGROUND: Becker muscular dystrophy (BMD) is a rare X-linked neuromuscular disorder predominantly affecting males. While respiratory function has been characterised in small cohorts over limited time frames, comprehensive long-term longitudinal data remain lacking, as do established care guidelines to inform respiratory surveillance in BMD. METHODS: In this retrospective analysis, we present a large longitudinal analysis of respiratory function in patients with BMD, based on 1360 spirometry measurements from a single-centre cohort of 152 patients. Analysed assessments spanned paediatric to adult ages (3.4-86.3 years), with a mean follow-up duration of 11 years per patient.Linear mixed-effects models were used to study longitudinal changes in respiratory function. RESULTS: Respiratory decline in BMD appears gradual and variable, typically not affecting children (<18 years of age).Respiratory support was infrequent (11.2%), always non-invasive and limited to nocturnal use.Loss of ambulation emerged as a strong predictor of faster decline in forced vital capacity percentage of predicted (FVC%) (estimate -0.58%/year, p=0.002), with the requirement for assistive walking devices marking a critical transitional stage.Upper limb function, assessed via the PUL 2.0 entry item, correlated significantly with FVC%, particularly among non-ambulant patients (rho=0.60, p=0.02). Cardiac involvement showed a limited effect on respiratory function, likely driven by patients with more advanced cardiomyopathy.No consistent genotype-phenotype correlations were observed. CONCLUSION: These findings provide important evidence to inform clinical management, supporting the recommendation of individualised respiratory monitoring strategies and contributing to the design and interpretation of clinical trials in BMD.
Author(s): Riguzzi P, Grover E, Schiava M, James MK, Diaz-Manera J, Tasca G, Bourke J, Borland H, Moat D, Elseed M, Michell-Sodhi J, Bolano-Diaz C, Wong K, Barreto Haagsma A, Robinson E, Reeves T, Waldock P, Harris E, McCallum M, Gadaleta G, Pegoraro E, Bello L, Messer B, Muni-Lofra R, Straub V, Marini Bettolo C, Guglieri M
Publication type: Article
Publication status: Published
Journal: Journal of Neurology, Neurosurgery, and Psychiatry
Year: 2026
Volume: 97
Issue: 5
Pages: 456-463
Print publication date: 01/05/2026
Online publication date: 27/02/2026
Acceptance date: 25/01/2026
Date deposited: 27/04/2026
ISSN (print): 0022-3050
ISSN (electronic): 1468-330X
Publisher: BMJ Publishing Group
URL: https://doi.org/10.1136/jnnp-2025-337953
DOI: 10.1136/jnnp-2025-337953
Data Access Statement: Data are available upon reasonable request. Anonymised data not published within this article will be made available upon reasonable request from any qualified investigator.
PubMed id: 41760395
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