Key result
Reading frame mutations are not associated with clinical or laboratory differences in Becker Muscular Dystrophy.
Why the study?
Becker Muscular Dystrophy is a rare progressive muscle disease with variable clinical features and genetic mutations, requiring detailed clinical and genetic profiling.
Observational (n=67)
No
In patients with Becker Muscular Dystrophy, cardiac and psychiatric involvement may be associated with specific genetic mutations, highlighting the importance of genetic analysis for prognosis.
Reading frame status should not guide BMD prognostication; leaves open whether other genetic variants influence cardiac or psychiatric risk.
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.
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Güzin et al. (2025) conducted an observational in Becker Muscular Dystrophy (n=67). Reading frame mutations (in-frame vs out-of-frame) vs. Out-of-frame mutations was evaluated on Differences in clinical and laboratory findings between patients with and without in-frame mutations. In patients with Becker Muscular Dystrophy, there was no significant difference in clinical and laboratory findings between those with and without reading frame mutations.
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