Learning more about distal and myofibrillar myopathies in the UK

Distal and myofibrillar myopathies are very rare conditions that cause muscles to get weaker over time. Because they’re so rare, doctors don’t always recognise them, and people can be given the wrong diagnosis or no diagnosis at all.

One reason for this is that we still don’t know much about these conditions. We don’t hold much information, so it’s hard to know how many people have them, how they change over time, why some people feel worse than others, or why they affect the heart and breathing muscles in some people but not in others.

This lack of knowledge makes it harder for people to get the right care and slows down the search for treatments. If scientists don’t know how the condition changes over time, they can’t tell if a treatment is helping.

To change this, scientists need to collect more information about symptoms, genetics, and what happens to muscles. This will help them understand the condition better and improve diagnosis, care and treatment in the future.

This project aims to help scientists learn more about distal and myofibrillar myopathies. The team will focus on four areas:

1) Create a UK-wide network for distal and myofibrillar myopathies. This will help collect information, like symptoms, genetic data, and muscle images and samples, from different hospitals. By bringing this together, scientists can build a clearer picture of these conditions.

2) Test new digital tools, such as wearable technology, to see if they can track changes in movement over time in people with these conditions.

3) Study muscle samples to understand what goes wrong inside muscle cells.

4) Look for links between genetic changes, muscle images, and problems in cells. This could help explain why symptoms vary between people and why the condition gets worse more quickly in some people.

This research will help improve care, speed up diagnosis, and support the development of treatments for people with distal and myofibrillar myopathies. Right now, these conditions are hard to spot and manage because we don’t know enough about them.

By learning more about how the conditions progress and what goes wrong inside muscle cells, doctors may be able to give clearer information about what to expect and offer more personalised care. This could also lead to new ways to treat the disease.

The project will also help prepare for clinical trials. These are studies that test whether a new treatment is safe and works well. To run trials, scientists need good ways to measure how the condition changes. This research will help develop those tools and begin building the expert network needed to run clinical trials in the future.