Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease due to mutations in the DMD gene, leading to a deficient and less functional dystrophin mainly in skeletal and cardiac muscle. Understanding the natural history of BMD is crucial for optimizing patient care and developing targeted treatments.
For this study retrospective data are collected from 943 patients diagnosed with BMD based on a combination of clinical, biochemical and genetic criteria followed by 17 Italian neuromuscular centers.
The study analyzed patients with a median age of 26 at the last checkup and a median diagnosis age of 7.5. In 55% of cases. Regarding genetic mutations, 86% had in-frame deletions/duplications, 10% had out-of-frame mutations, and 4% had nonsense mutations. Patients with specific mutations, such as del45-49, experienced earlier loss of ambulation compared to those with del45-47. Conversely, mutations like del45-55 and del48 were linked to later loss of ambulation and lower odds of left ventricular dysfunction.
The results of this study contribute to the better understanding of the natural history of BMD and capture precious data in the era of the emerging therapies. The knowledge of the specific DMD mutation may help to define a prognosis in a subset of BMD patients and will serve as a model for the design of future therapies. Read the full article here.