The muscular dystrophies (MD) are a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability.
MD is a progressive condition, which means it gets worse over time. It often begins by affecting a particular group of muscles, before affecting the muscles more widely.
Some types of MD eventually affect the heart or the muscles used for breathing, at which point the condition becomes life-threatening.
There's no cure for MD, but treatment can help to manage many of the symptoms.
MD is caused by changes (mutations) in the genes responsible for the structure and functioning of a person's muscles.
The mutations cause changes in the muscle fibres that interfere with the muscles' ability to function. Over time, this causes increasing disability.
The mutations are often inherited from a person's parents. If you have a family history of MD, your GP may refer you for genetic testing and counselling to evaluate your risk of developing the condition or having a child with MD, and to discuss the options available to you.
There are many different types of MD, each with somewhat different symptoms. Not all types cause severe disability and many don't affect life expectancy.
Some of the more common types of MD include:
In the UK, more than 70,000 people have MD or a related condition.
Duchenne MD is the most common type of MD. In the UK, about 100 boys are born with Duchenne MD each year, and there are about 2,500 boys living with the condition in the UK at any one time.
Myotonic MD is the second most common type of MD, affecting around one person in every 8,000.
Facioscapulohumeral MD is thought to affect around one in every 20,000 people in the UK, making it the third most common MD.
Many different methods can be used to diagnose the various types of MD. The age at which the condition is diagnosed will vary, depending on when symptoms first start to appear.
Diagnosis will involve some or all of the following stages:
Visit your GP if you or your child has any symptoms of MD. If necessary, your GP may refer you to a hospital for further tests.
There's no cure for MD, but a range of treatments can help with the physical disabilities and problems that may develop. These can include:
New research is looking into ways of repairing the genetic mutations and damaged muscles associated with MD. There are currently promising clinical trials for Duchenne MD.
Read more about treating MD.
If you have MD, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).
This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.