Muscular dystrophy

What is muscular dystrophy?

Muscular dystrophy is the name of a group of genetic (inherited) disorders that cause weakness and wasting in the muscles that control your movement. There is no cure for muscular dystrophy. Medicines and physical therapy can help you manage your symptoms and slow down disease progression.

What are the different 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, with symptoms usually appearing at 2 to 4 years of age. It usually affects males, but females can still be carriers of the disease and pass it on to their male children.
• Becker — though similar to Duchenne, Becker is more mild and progresses more slowly. Symptoms usually occur later, during adolescence.
• Myotonic — this is the most common type in adults, affecting both males and females. In this type, you can’t relax your muscles after using them. You may notice muscle stiffness before noticing weakness.
• Facioscapulohumeral (FSHD) — symptoms usually begin in the face and shoulders. It can start in infancy, late childhood or early adulthood. It affects both females and males.
• Limb-girdle — the hip and shoulder muscles are usually affected first. There may also be breathing problems. It generally first occurs in childhood or early adulthood, and affects both males and females.

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

What are the symptoms of muscular dystrophy?

In muscular dystrophy, your muscles gradually weaken.

This can cause:

• delays in learning to walk in early childhood and/or loss of walking ability at age 7 to 12 years
• wasted muscles, clumsiness, frequent falls and finding it hard to get up
• losing the ability to walk
• breathing problems, usually after you lose walking ability
• a curved spine (scoliosis)
• heart problems

How is muscular dystrophy diagnosed?

If you or your child have symptoms of muscular dystrophy, or if you have a family history of the disease, a doctor or genetic counsellor can refer you for genetic tests to diagnose muscular dystrophy.

Diagnosis can also involve:

• blood tests
• a muscle biopsy
• tests of your muscles and nervous system
• heart tests
• lung or breathing tests

How is muscular dystrophy treated?

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

Treatment depends on the type of muscular dystrophy and may include:

• psychological support for you and your family
• physiotherapy and occupational therapy
• equipment such as leg braces, walkers and wheelchairs
• household adaptations such as ramps, rails, hoists
• communication and breathing aids
• corticosteroids (steroid medicines) that may slow the progress of muscle weakness