BeckerMuskeldystrophie

BeckerMuskeldystrophie, also known as Becker muscular dystrophy (BMD), is a genetic neuromuscular disorder characterized by progressive weakness and degeneration of the skeletal muscles. It is caused by mutations in the DMD gene, which encodes the protein dystrophin. Unlike Duchenne muscular dystrophy (DMD), which results from the absence of dystrophin, Becker muscular dystrophy involves reduced or abnormal dystrophin production, leading to a typically milder and more variable disease course.

The onset of Becker muscular dystrophy usually occurs during adolescence or early adulthood, but symptoms can appear at any age. Common early signs include muscle weakness in the hips, thighs, and shoulders, which may lead to difficulties in walking, running, and climbing stairs. Over time, muscle degeneration worsens, potentially affecting cardiac and respiratory muscles, leading to complications like cardiomyopathy and respiratory insufficiency.

The diagnosis of BMD involves clinical evaluation, family history, genetic testing to identify DMD gene mutations, and muscle biopsy to assess dystrophin levels. There is no cure for Becker muscular dystrophy, and treatment focuses on managing symptoms and maintaining function. Supportive therapies include physical therapy, corticosteroids, assistive devices, and regular cardiac and respiratory monitoring.

The disease exhibits a wide phenotypic variability, with some individuals experiencing mild symptoms and others facing significant disability. Life expectancy can vary, often influenced by cardiac and respiratory health. Ongoing research efforts aim to develop targeted therapies, including gene therapy and molecular treatments, to slow or halt disease progression.

Overall, Becker muscular dystrophy is a genetic condition that requires a multidisciplinary approach to management, emphasizing quality of life and symptomatic relief.