What is muscular dystrophy?

Muscular dystrophy is the name of a group of genetic (inherited) diseases affecting muscles that control movement. Sometimes the heart and other muscles may be involved.

If you have muscular dystrophy, your body can’t make the proteins needed to form healthy muscle. This causes gradual weakness and loss of muscle tissue.

Types of muscular dystrophy

There are many different types of muscular dystrophy. The most common ones are:

• Duchenne – this is the most common kind in children. It usually affects boys, but girls can still be carriers of the disease.
• Becker – while similar to Duchenne, Becker is milder and progresses more slowly. Symptoms usually occur later, during the teen years.
• Myotonic – this is the most common type in adults, affecting both men and women. The person is unable to relax their muscles after using them.
• Facioscapulohumeral (FSHD) – symptoms usually begin in the face and shoulders. It can start in the teenage years, but may begin later, and affects both females and males.
• Limb-girdle – the hip and shoulder muscles are usually affected first. It generally first occurs in childhood or the teenage years in both males and females.

Other forms of the disease are Emery–Dreifuss, oculopharyngeal, distal and congenital muscular dystrophy.

Muscular dystrophy symptoms

In muscular dystrophy, muscles gradually weaken. This can cause:

• falling regularly and finding it hard to get up
• problems with walking
• breathing problems
• a curved spine (scoliosis)
• heart problems
• swallowing problems

Muscular dystrophy diagnosis

Muscular dystrophy is often diagnosed through genetic tests. Doctors may test people with a family history of the disease. A genetic counsellor may help with the testing.

Diagnosis can also involve:

• blood tests (enzyme tests)
• a muscle biopsy
• nervous system checks
• an MRI scan
• other heart, lung or muscles tests

Muscular dystrophy treatment

Unfortunately, there is no cure for muscular dystrophy. The aim of treatment is to keep the person with the condition feeling as good and as mobile as possible, for as long as possible.

Treatment depends on the type of muscular dystrophy. Options include medicines, physical therapy, surgery and other procedures. Treatments include:

• corticosteroids (steroid medicines)
• heart medicines or a pacemaker if the heart is affected
• breathing assistance (ventilators and other devices) if breathing muscles are affected
• walkers and wheelchairs to maintain mobility and independence
• surgery to correct a curved spine
• stretching exercises
• low-impact exercise, such as walking and swimming, which can help maintain strength, mobility and general health
• braces to support weakened muscles and keep tendons stretched and flexible