Duchenne muscular dystrophy (DMD) is caused by changes in the dystrophin gene and is well known for affecting muscles. However, the dystrophin gene also plays an important role in the brain. Many individuals with DMD experience challenges such as attention difficulties, hyperactivity, impulsive behaviour, learning problems, or difficulties adapting to change. The reasons for these brain-related differences, and how they relate to specific genetic changes, are still not fully understood.  

In this study, researchers used mouse models of DMD that are missing different forms of dystrophin normally found in the brain. These mouse models represent the genetic profiles of most people living with DMD. By observing the mice in both standard tests and more natural home-cage environments, the researchers found that while basic daily activity levels were normal, the mice showed impulsive and compulsive traits when tasks became more demanding or unpredictable. Mice missing additional brain dystrophin forms showed greater difficulty with behavioural flexibility, meaning they struggled more to adapt when rules or conditions changed.

These findings help explain why attention-related and behavioural challenges are common in DMD and why they may differ between individuals depending on their genetic mutation. Importantly, the study identifies specific behavioural patterns linked to brain dystrophin loss that could be used to test future treatments aimed at improving brain function. This work supports the need to address brain health alongside muscle care in DMD, with the long-term goal of improving daily functioning and quality of life for patients and families.