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Coratti, Giorgia; Pane, Marika; Brogna, Claudia; D'Amico, Adele; Pegoraro, Elena; Bello, Luca; Sansone, Valeria A.; Albamonte, Emilio; Ferraroli, Elisabetta; Mazzone, Elena Stacy; Fanelli, Lavinia; Messina, Sonia; Sframeli, Maria; Catteruccia, Michela; Cicala, Gianpaolo; Capasso, Anna; Ricci, Martina; Frosini, Silvia; De Luca, Giacomo; Rolle, Enrica; De Sanctis, Roberto; Forcina, Nicola; Norcia, Giulia; Passamano, Luigia; Scutifero, Marianna; Gardani, Alice; Pini, Antonella; Monaco, Giulia; D'Angelo, Maria Grazia; Leone, Daniela; Zanin, Riccardo; Vita, Gian Luca; Panicucci, Chiara; Bruno, Claudio; Mongini, Tiziana; Ricci, Federica; Berardinelli, Angela; Battini, Roberta; Masson, Riccardo; Baranello, Giovanni; Dosi, Claudia; Bertini, Enrico; Nigro, Vincenzo; Politano, Luisa; Mercuri, Eugenio
Neuromuscular disorders : NMD, January 2024, 2024-Jan, 2024-01-00, 20240101, Volume: 34Journal Article
•Performance of upper limb 2.0 measures DMD patients' changes.•Ambulant patients demonstrate reduced loss, particularly in shoulder function.•Transitioning subgroup witnesses significant shoulder decline.•Non-ambulant patients experience notable loss in elbow and distal functions. Duchenne muscular dystrophy (DMD) is a neuromuscular condition characterized by muscle weakness. The Performance of upper limb (PUL) test is designed to evaluate upper limb function in DMD patients across three domains. The aim of this study is to identify frequently lost or gained PUL 2.0 abilities at distinct functional stages in DMD patients. This retrospective study analyzed prospectively collected data on 24-month PUL 2.0 changes related to ambulatory function. Ambulant patients were categorized based on initial 6MWT distance, non-ambulant patients by time since ambulation loss. Each PUL 2.0 item was classified as shift up, no change, or shift down. The study's cohort incuded 274 patients, with 626 paired evaluations at the 24-month mark. Among these, 55.1 % had activity loss, while 29.1 % had gains. Ambulant patients showed the lowest loss rates, mainly in the shoulder domain. The highest loss rate was in the shoulder domain in the transitioning subgroup and in elbow and distal domains in the non-ambulant patients. Younger ambulant patients demonstrated multiple gains, whereas in the other functional subgroups there were fewer gains, mostly tied to singular activities. Our findings highlight divergent upper limb domain progression, partly linked to functional status and baseline function.
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