Browse by author
Lookup NU author(s): Professor Volker StraubORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. Aim: To investigate the associations between mutations expected to differentially affect Dp140 expression and long-term trajectories of respiratory and upper-limb motor outcomes in Duchenne muscular dystrophy (DMD). Method: In a retrospective analysis of population-based longitudinal data from three real-world and natural history data sources, individuals with DMD aged 5 years to 18 years were subdivided according to the predicted effects of the participants' DMD mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140/Dp71 present; group 2, Dp427/Dp140 absent, Dp71 present). Results: A total of 459 participants were studied, with upper-limb outcomes assessed in 71 (27 in group 1 and 44 in group 2) and forced vital capacity percentage predicted (%pred) assessed in 434 (224 in group 1 and 210 in group 2). Mean grip strength %pred was on average 7.1 percentage points lower in group 2 than in group 1 (p = 0.03). Mean pinch strength %pred was on average 9.2 percentage points lower in group 2 than in group 1 (p = 0.04). Mean forced vital capacity %pred was on average 4.3 percentage points lower in group 2 than in group 1 (p = 0.01). Interpretation: In individuals with DMD, DMD mutations predicted to affect Dp140 expression were associated with more severe trajectories of respiratory and upper-limb motor outcomes.
Author(s): Chesshyre M, Ridout D, Stimpson G, Ricotti V, De Lucia S, Niks EH, Straub V, Servais L, Hogrel J-Y, Baranello G, Manzur A, UK NorthStar Clinical Network, Muntoni F, on behalf of the iMDEX Network
Publication type: Article
Publication status: Published
Journal: Developmental Medicine and Child Neurology
Year: 2025
Pages: Epub ahead of print
Online publication date: 14/03/2025
Acceptance date: 24/01/2025
Date deposited: 10/04/2025
ISSN (print): 0012-1622
ISSN (electronic): 1469-8749
Publisher: John Wiley and Sons Inc.
URL: https://doi.org/10.1111/dmcn.16282
DOI: 10.1111/dmcn.16282
Data Access Statement: The data that support the findings of this study are available from the corresponding author (Francesco Muntoni) upon reasonable request.
PubMed id: 40084496
Altmetrics provided by Altmetric
