Clinical characterization of a large monocentre cohort of patients with Becker Muscular Dystrophy

Pietro Riguzzi

Clinical characterization of a large monocentre cohort of patients with Becker Muscular Dystrophy

Autori

PIETRO RIGUZZI (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK. 2. DEPARTMENT OF NEUROSCIENCES, UNIVERSITY OF PADOVA, PADOVA, ITALY – NEUROLOGIA)
HOLLY BORLAND (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)
CHIARA MARINI BETTOLO (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 – )
ROBERT MUNI LOFRA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
JORDI DIAZ-MANERA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
GIORGIO TASCA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
MAHA ELSEED (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
MARIANELA SCHIAVA (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
CARLA BOLANO DIAZ (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
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 – )
KAREN WONG (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – )
ELENA PEGORARO (2. DEPARTMENT OF NEUROSCIENCES, UNIVERSITY OF PADOVA, PADOVA, ITALY – NEUROLOGIA)
LUCA BELLO (2. DEPARTMENT OF NEUROSCIENCES, UNIVERSITY OF PADOVA, PADOVA, ITALY – NEUROLOGIA)
VOLKER STRAUB (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – PEDIATRIA)
MICHELA GUGLIERI (1. JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)

Presentatore

PIETRO RIGUZZI (JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, TRANSLATIONAL AND CLINICAL RESEARCH INSTITUTE, NEWCASTLE UNIVERSITY, NEWCASTLE UPON TYNE, UK; DEPARTMENT OF NEUROSCIENCES, UNIVERSITY OF PADOVA, PADOVA, ITALY)

Modalità

Poster Session

Abstract

“Background and aims: Patients with Becker muscular dystrophy (BMD) present with varied clinical features and disease progression. This cross-sectional, retrospective study aims to provide a comprehensive description of BMD phenotypes utilizing data from a large cohort of patients followed at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK.

Methods: We analysed data from 163 male patients with confirmed molecular diagnosis of BMD, defined by in-frame DMD mutations; a subset of patients with mutations predicted to result in reading frameshift, were included if a muscle biopsy showing dystrophin expression (>3%) was accessible on clinical notes.

Results: Diagnosis of BMD was prompted by positive family history in 28% of cases, skeletal muscle symptoms in 52%, neurocognitive issues in 10%, and more rarely following incidental finding of high CK (6%) or detection of cardiomyopathy (4%). Approximately 23% of patients lost ambulation at a mean age of 42 years. Cardiac involvement was present in ~50% of patients, while severe respiratory impairment (Forced Vital Capacity <60%) was rare (~12%). Behavioural and learning difficulties were common (~46%), but formal neuropsychological diagnoses were made in only 17% of cases.

Conclusions: Ambulation loss in BMD is infrequent, typically occurring in later stages. Cardiac involvement is widespread, contrasting with rare severe respiratory impairment. Neurodevelopmental disorders may be underdiagnosed, and cognitive impairment as well as behavioural issues ought to be regarded as potential presenting symptoms of BMD, even in the absence of overt muscle weakness.”