Michela Guglieri
Clinical features in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
Autori
- MARIANELA SCHIAVA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
- ROBERT MUNI LOFRA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- JOHN BOURKE (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – CARDIOLOGIA)
- JORDI DÍAZ-MANERA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
- MEREDITH JAMES (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- MAHA ELSEED (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – PEDIATRIA)
- MONIKA MALINOVA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- JASSI MICHEL-SODHI (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- DIONNE MOAT (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- ELISABETTA GHIMENTON (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – PEDIATRIA)
- MICHELLE MCCALLUM (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- CARLA FLORENCIA BOLAÑO DÍAZ (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
- ANNA MAYHEW (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- KAREN WONG (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- MARK RICHARDSON (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- GIORGIO TASCA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
- GAIL EGLON (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- MICHELLE EAGLE (2. ATOM INTERNATIONAL LIMITED, GATESHEAD, UK. – )
- CATHY TURNER (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- EMMA HESLOP (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
- VOLKER STRAUB (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA PEDIATRICA)
- CHIARA MARINI BETTOLO (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
- MICHELA GUGLIERI (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
Presentatore
MICHELA GUGLIERI (JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK)
Modalità
Poster Session
Abstract
“Background: With improved, multi-disciplinary care, there is a growing population of adults with Duchenne muscular dystrophy. However, there are limited information on their clinical features. Here we describe functional abilities, respiratory and cardiac function and comorbidities in a large cohort of adolescents and adults with DMD and explore the effect of glucocorticoid treatment with late-stage clinical outcomes.
Methods: This is a retrospective single centre study on adolescents and adults (≥ 16 years old) with a genetically confirmed diagnosis of DMD followed up at a specialised centre for neuromuscular diseases (John Walton Muscular Dystrophy Research Centre, UK) between 1986 and 2022.
Results: 112 individuals were included, with a mean age of 23.4 ± 5.2 years. At last assessment, 47.2% were on glucocorticoids; mean dose of prednisone was 0.38 ± 0.13 and deflazacort 0.43 ± 0.16 mg/kg/d. At age 16 years, 89.7% of the patients were using a manual wheelchair; 86.3% had difficulties transferring from a wheelchair and 53.4% in turning in bed; 53.3% had a FVC < 50% and 40.3% had impaired cardiac function. Continuation of glucocorticoid treatment after LOA delayed the time to loss of hand to mouth function, FVCpp < 30%, without differences between prednisone and deflazacort. The most common comorbidities were dysphagia (36.6%), constipation (36.6%), urinary conditions (27.8%) and scoliosis 61.6%. Polypharmacy was seen in 60.7%. Glucocorticoid-naïve, lower respiratory and motor function associated with dysphagia and constipation.
Conclusion: Glucocorticoid after LOA preserves late-stage functional abilities, respiratory, and cardiac function. This study can inform adult services planning and arrangements.”