Building a digital version of a tool that helps spot brain-related features of DMD

Duchenne muscular dystrophy (DMD) is caused by changes in a gene that produces a protein called dystrophin. This protein helps protect muscles and keep them functioning properly.

Dystrophin is also found in the brain. This may help explain why DMD can affect how some people learn, pay attention, manage emotions or interact socially. Some people may also get a diagnosis such as ADHD or OCD.

Many people with DMD have these brain‑related features but do not get a diagnosis. This means they might miss out on support that could help at home, at school or in everyday life.

A screening tool has been created to help spot these features earlier. It is designed to make it easier for families and professionals to notice when someone with DMD may need extra checks or support.

Early testing shows that the tool works well. The next step is to bring it into everyday care, so that more people with DMD can get help and advice sooner.

Professor Muntoni and the team plan to develop a permanent digital version of the screening tool. Having an online version will make it easier to:

• safely collect and store answers

• allow parents, carers and people with DMD to fill it in from anywhere

• share information with a person’s local care team, when this is helpful

Over time, the team hope to link the digital tool to the NorthStar network, which we have supported since it began in 2004. NorthStar is a national system that collects information about people with DMD from centres across the UK. This includes details about their health, their care and how the condition changes over time. It has already helped improve care and increased understanding of the condition. Linking the new tool to NorthStar will help collect this information in the same way across the country.

A digital version of the tool could help spot brain‑related features earlier and more fairly across the UK. This can help families get clearer answers, quicker help and more joined‑up care.

Linking the tool to the NorthStar network will also help build a better picture of how these brain‑related features affect people with DMD. This can guide improvements in care, resources and services for families, and help make sure these needs are not overlooked.