What is it?

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 Muscular Dystrophies, but treatment can help to manage many of the symptoms.

There are many different types of MD, each with 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; people 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, 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, whereas others develop slowly
- Oculopharyngeal MD: a type of MD that doesn't usually develop until a person is between 50 and 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

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Signs & symptoms

For most types of muscular dystrophy, symptoms start to show up in childhood or the teen years. In general, children with the condition:
- Fall often
- Have weak muscles
- Have muscle cramps
- Have trouble getting up, climbing stairs, running, or jumping
- Walk on their toes or waddle

Some will also have symptoms like:
- A curved spine (called scoliosis)
- Droopy eyelids
- Heart problems
- Trouble breathing or swallowing
- Vision problems
- Weakness in the muscles of the face


Many different methods can be used to diagnose the various types of Muscular Dystrophy. 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 symptoms
- Discussing any family history of Muscular Dystrophy
- Physical examination
- Blood tests
- Electrical tests on the nerves and muscles
- A muscle biopsy (where a small tissue sample is removed for testing)


There's no cure for Muscular Dystrophy, but a range of treatments may 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 Muscular Dystrophy
- 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

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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