Journal of neurology, neurosurgery, and psychiatry · 2026
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.
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Riguzzi Pietro, Grover Emma, Schiava Marianela, James Meredith K, Diaz-Manera Jordi, Tasca Giorgio, Bourke John, Borland Holly, Moat Dionne, Elseed Maha, Michell-Sodhi Jassi, Bolaño-Díaz Carla, Wong Karen, Barreto Haagsma Ariele, Robinson Emma, Reeves Tara, Waldock Peter, Harris Elizabeth, McCallum Michelle, Gadaleta Giulio, Pegoraro Elena, Bello Luca, Messer Ben, Muni-Lofra Robert, Straub Volker, Marini Bettolo Chiara, Guglieri Michela
Аннотация
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.
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.