Introduction

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.

Sometypes ofMD 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.

What causes 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 musclefibres thatinterfere 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.

Read moreabout the causes of MD and genetic testing for MD .

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
• 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, butit develops later in childhood and isless 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 andbe life-threatening, whereas 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

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.

Diagnosing muscular dystrophy

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)

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.

Treating muscular dystrophy

There's no cure for MD, but a range oftreatments can help with the physical disabilities and problems that may develop. Thesecan 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

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 .

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

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