Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

ABSTRACT:

Aims

This retrospective, cross-sectional study aimed to characterise a large cohort of paediatric and adult patients with Becker muscular dystrophy (BMD) to inform clinical care.

Results

The analysis included data from 163 male patients with genetically confirmed BMD followed up at a highly specialised neuromuscular centre between 1982 and 2023. The mean age at last neuromuscular assessment was 33.2 years (range 1.4-86.3). Large deletions in the DMD gene were the most common variants (78% of cases), followed by large duplications and small variants, each accounting for 11% of cases. BMD diagnosis was prompted by skeletal muscle symptoms in 52.2% of cases, a positive family history in 27.6%, neuropsychiatric issues or diagnoses in 9.7%, incidental findings in 6.7%, and cardio

SUBMITTER: Riguzzi P 

PROVIDER: S-EPMC12145297 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature