Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases

Yıl 2025, Cilt: 19 Sayı: 3, 123 - 129, 14.05.2025

Yiğithan Güzin , Deniz Sevcan Doğan , Gamze Sarıkaya Uzan , Gizem Doğan , Bakiye Tunçay , Berk Özyılmaz , Figen Baydan

https://doi.org/10.12956/tchd.1557901

Öz

Objective: Becker Muscular Dystrophy (BMD) is a rare and progressive muscle disease characterized by mutations in the dystrophin gene. Although similar to Duchenne Muscular Dystrophy (DMD), BMD usually has a milder course. The aim of this study was to analyze the clinical and genetic profiles of BMD.

Material and Methods: Evaluations were made of 67 patients diagnosed with BMD between 2006 and 2024. Clinical findings, laboratory tests, and genetic analysis of the patients were retrospectively analyzed.

Results: The study group consisted of 67 patients with a mean age of 11.6±4.1 years and age at diagnosis of 4.6±3.3 years. A total of 7.5% of the patients had a history of consanguineous marriage, and 35.8% had a family history of BMD. The most common clinical symptoms were exercise intolerance (44.8%), fatigue (19.4%), and exercise-related pain (14.9%). Cardiac involvement was detected in 11.9% of the patients, and mutations between exons 45-55 were most frequently detected in these patients. Psychiatric problems were detected in 22.4% of patients, and 66.7% of these patients had mutations involving the exon 45 region. There was no significant difference in the clinical and laboratory findings of patients with reading frame mutations.

Conclusion: Although patients with BMD usually have milder clinical features, it was observed that cardiac and psychiatric involvement in particular may be associated with certain genetic mutations. Genetic analysis is considered to be an important tool in the diagnosis and prognosis of BMD, which may reduce the need for muscle biopsy.

Anahtar Kelimeler

Becker muscular dystrophy , Clinical characteristics , Genetic mutations , Reading frame mutations

Destekleyen Kurum

yoktur

Kaynakça

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