Understanding how the brain is involved in Duchenne and Becker muscular dystrophy

This project is part of the Brain Involvement in Dystrophinopathies (BIND) study. The BIND study’s goal is to improve the understanding and measurement of dystrophin in the brain. Dystrophin is a protein which plays a key role in maintaining the strength of muscles. People with Duchenne muscular dystrophy (DMD) do not produce dystrophin and people with Becker muscular dystrophy (BMD) produce less dystrophin, resulting in damage to muscles. While there has been lots of research of dystrophin in muscles, less research has looked at its impact in the brain, as well as the impact of the brain in people with DMD and BMD.

This part of the BIND project aims to explore more about how DMD and BMD impacts how the brain works. Dr Hermien Kan will use brain scans, behavioural data and assessments of brain function, such as attention, concentration, and memory to understand what happens to the brain in DMD and BMD.

This research could lead to tests which could help diagnose DMD and BMD. For example, specific results from brain function assessments, could be used alongside genetic test results and other data collected at clinic to help point clinicians towards a DMD or BMD . This would help to speed up diagnosis and allow earlier access to care and treatment.

The addition of the brain scan data could help increase our understanding of the processes that happen in the brain in DMD and BMD. By comparing to scans from people without the condition, the researchers may identify key areas which are different. These could then be targeted by treatments in the future and potentially treat symptoms of DMD and BMD which affect the brain.