Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease Progression

Ribeiro, Mário; Silva, Joana; Gonçalves, Ana; Santos, Manuela; Garrido, Cristina

http://hdl.handle.net/10400.16/3760

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Introduction: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease caused by variants in the DMD gene that leads to progressive muscle weakness, dilated cardiomyopathy, and neurodevelopmental issues. Objective: To characterize patients with BMD from a pediatric neuromuscular disease center. Methods: Retrospective and descriptive study of BMD patients diagnosed between January 1995 and May 2024. Results: A total of 22 male cases were identified, with 9/22 reporting family history of BMD. First symptoms appeared at a median age of 3.0 years (IQR 4.5) and included unstable gait (5/22), fatigue (5/22), myalgias (4/22), asymptomatic elevation of creatine kinase (3/22), delayed motor development (3/22), and myoglobinuria (2/22). Average age at diagnosis was 7.7 years (IQR 5.6). The most frequent genetic alteration was a deletion involving exon 48 of the DMD gene (8/22). The developmental issues identified were intellectual disability (5/22), attention-deficit/hyperactivity disorder (ADHD) (3/22), autism spectrum disorder (1/22), and specific language impairment (1/22). Dilated cardiomyopathy developed at pediatric age in 1 patient, and 3 started corticosteroid therapy owing to worsening motor symptoms. The average follow-up time was 8.7 years (SD 1.1). Conclusion: The phenotypic variability of BMD complicates its diagnosis, but early recognition is crucial for conducting appropriate monitoring and genetic counseling as well as family studies. Our findings highlight the need for multidisciplinary follow-up, particularly due to the significant prevalence of neurodevelopmental problems.