What is Becker Muscular Dystrophy?

Becker muscular dystrophy (BMD) is a muscle-wasting condition, which affects males. It is a genetic disease caused by mutations in the dystrophin gene (or DMD gene) and clinically presents with progressive muscle weakness and wasting, leading to increasing and sometimes severe disability. It is closely related to Duchenne Muscular Dystrophy (DMD), also caused by mutations in the DMD gene, although is generally not as severe.

The clinical spectrum in BMD is broad, ranging from high creatine kinase (CK) levels with no muscle symptoms or only mild weakness to severe muscle involvement and potentially life-threatening health complications, as heart and breathing muscles weaken. Additionally, manifestations in BMD may encompass learning difficulties, psychiatric issues, and neurodevelopmental disorders, including conditions like autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).

Over the past few years, there has been an increased interest in BMD, with upcoming natural history and interventional clinical trials, offering an opportunity to develop a network to support clinical trial delivery for BMD in the UK.