On this page:

Myotonic dystrophy is a genetic condition thought to affect approximately 1 in 5000 people. It can cause muscle wasting and myotonia (delay in or difficulty relaxing muscles after they are contracted). As well as the muscles it can affect many other systems of the body causing irregular heart rhythm (arrythmia), breathing and swallowing difficulties, endocrine disorders (diabetes or thyroid), cataracts, early balding and sometimes learning difficulty or cognitive problems.

While there is no cure there are many symptomatic treatments available and careful monitoring for complications can help to prevent them or reduce their impact, helping you to live well with myotonic dystrophy.



General information


The myotonic dystrophy clinic is a regional service run by Dr Matthews. If you are referred to the clinic it will be to determine whether you have myotonic dystrophy or if you already have a diagnosis you may be referred for treatment. When you attend clinic you will be asked questions about your symptoms and be examined. You may also have neurophysiology tests (electrical recordings of the nerves and muscles), blood tests (including the option of genetic tests) and an ECG (electrical recording of the heart).



Other members of the clinic team are Pam Appleton, neuromuscular care advisor and Sherryl Chatfield, neuromuscular physio. They can offer advice on lifestyle, work, physical activity, financial support, equipment and will refer you to your local neurotherapy and orthotics teams if you need them. The clinic has close links with genetic, cardiology and respiratory colleagues who are also likely to be involved in your care.

If you have a diagnosis of myotonic dystrophy you may like to join the UK myotonic dystrophy registry: Home – UK Patient Registry for Myotonic Dystrophy (dm-registry.org.uk). This is an excellent way to be kept up to date about treatment developments and opportunities to take part in clinical trials if this is something you wish to do.