The muscular dystrophies (MD) are a group of inherited genetic conditions. MD gradually cause the muscles to weaken. This leads to an increasing level of disability. See your GP if you or your child has any symptoms of MD, (see section on symptoms below).
About muscular dystrophy
MD is a progressive condition. This 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.
Causes of muscular dystrophy
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. This is to evaluate your risk of developing the condition or having a child with MD, and to discuss the options available to you.
Investigating symptoms of MD
Your GP will need to know about any symptoms of MD that you or your child have noticed and when they began to appear. For example, you or your child may be:
- finding it difficult to climb the stairs
- unable to play sports as you used to
- finding it difficult to lift objects
In a younger child you may notice that they have difficulty walking or that they fall down more often than other children.
They may also find it difficult to stand up from sitting on the floor. They may use what's known as the Gower's manoeuvre to do this. This is where a child stands up by:
- facing the floor
- placing their feet wide apart
- lifting their bottom first
- using their hands to "walk up" their legs by first placing their hands on their knees and then on their thighs
When to see your GP
You should see your GP if you or your child has any symptoms of MD, see above. If necessary, your GP may refer you to a hospital for further tests.
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:
- investigating any symptoms
- discussing any family history of MD
- physical examination
- blood tests
- electrical tests on the nerves and muscles
- a muscle biopsy (where a small tissue sample is removed for testing)
Types of muscular dystrophy
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:
- Duchenne MD – one of the most common and severe forms, it usually affects boys in early childhood; men with the condition will usually only live into their 20s or 30s Symptoms can be present from birth, but this is unusual and signs usually appear between 12 months and three years of age
- myotonic dystrophy – a type of MD that can develop at any age; life expectancy isn't always affected, but people with a severe form of myotonic dystrophy may have shortened lives
- facioscapulohumeral MD – a type of MD that can develop in childhood or adulthood; it progresses slowly and isn't usually life-threatening
- Becker MD – closely related to Duchenne MD, but it develops later in childhood and is less severe; life expectancy isn't usually affected as much
- limb-girdle MD – a group of conditions that usually develop in late childhood or early adulthood; some variants can progress quickly and be life-threatening, but others develop slowly
- oculopharyngeal MD – a type of MD that doesn't usually develop until a person is 50-60 years old, and doesn't tend to affect life expectancy
- Emery-Dreifuss MD – a type of MD that develops in childhood or early adulthood; most people with this condition will live until at least middle-age
Treating muscular dystrophy
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:
- mobility assistance – including exercise, physiotherapy and physical aids
- support groups – to deal with the practical and emotional impact of MD
- surgery – to correct postural deformities, such as scoliosis
- medication – such as steroids to improve muscle strength, or ACE inhibitors and beta-blockers to treat heart problems
More useful links
The information on this page has been adapted from original content from the NHS website.
For further information see terms and conditions.