Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20
Year: 2025
Type: article
Study design: Observational Study
Abstract: INTRODUCTION: Duchenne muscular dystrophy (DMD) is a progressive disorder. This study evaluates upper limb function in DMD patients using the Performance of Upper Limb 2.0 (PUL 2.0) over 36-months. METHODS: Data were collected between 2011 and 2024. Patients with at least 36 months of follow-up were included. Mixed-effects models accounting for repeated measures evaluated 36-month PUL 2.0 changes by entry item and ambulatory status. The entry item assesses the overall upper limb function of the patient. Ambulant patients were defined as those able to walk 10 meters independently, transitioning patients as those who lost ambulation during the duration of the study and non-ambulant as those who had already lost ambulation at baseline. RESULTS: A total of 219 patients provided 684 paired 36-month assessments. Ambulatory status significantly affected total, shoulder, elbow, and distal scores at baseline. The largest 36-month decline in total scores was found in the 58 transitioning patients (11.62 points, 95%CI = -12.40, 10.84), followed by non-ambulant and ambulant subgroups (n = 116 and n = 86 respectively). The largest declines were seen in patients with baseline entry score of 4 (-11.97, 95% CI = -13.48, -10.46) and 5 (-11.55, 95% CI = -12.46, -10.63), with smaller declines for other entry scores.ConclusionsThe 36-month analysis confirms a clear trend of functional decline across time points, with the transitioning group exhibiting the greatest changes in upper limb function. These findings provide valuable insights for designing trials and offer a reference for long-term comparison of treatment efficacy in both experimental and real-world setting.
Authors: Giorgia Coratti, Marika Pane, Sophia Paolucci, Luca Bello, Adele D’Amico, Angela Berardinelli, Michela Catteruccia, Giacomo De Luca, Riccardo Masson, Riccardo Zanin, Roberta Battini, Claudia Dosi, Silvia Frosini, Alice Gardani, Bianca Buchignani, Anna Capasso, Federica Ricci, Gianpaolo Cicala, Ilaria Cavallina, Enrica Rolle, Tiziana Enrica Mongini, Valeria Ada Sansone, Emilio Albamonte, Antonella Pini, Melania Giannotta, Chiara Panicucci, Riccardo Not, Claudio Bruno, Vincenzo Nigro, Esther Picillo, Elena Pegoraro, Eugenio Mercuri, On behalf of the Italian DMD group
Institutions: Università Cattolica del Sacro Cuore, Centro Clinico Nemo, University of Padua, Azienda Ospedale - Università Padova, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Fondazione IRCCS Istituto Neurologico Carlo Besta, University of Pisa, Fondazione Stella Maris, University of Turin, University of Milan, Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda, Istituto Giannina Gaslini, University of Genoa, University of Campania "Luigi Vanvitelli", Telethon Institute Of Genetics And Medicine
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Awards: G4649525237, G5285394400
OpenAlex ID: W4414326225