What is Muscular Dystrophy?

This information is taken from the Better Health Channel produced by the Victorian Department of Health. It provides a good summary of the various forms of muscular dystrophy. The link to this specific information is:
The Better Health Channel provides a considerable amount of information on practices for good health and improving everyday living, including for living with conditions like muscular dystrophy and other neuromuscular conditions. The link to the Better Health Channel is:
If you would like to talk to someone about anything to do with muscular dystrophy please contact your doctor or contact us at Capital Region Muscular Dystrophy: enquiries@capitalregionmd.org.au

Muscular Dystrophy

Muscular dystrophy is the name given to a group of neuromuscular disorders that cause progressive and irreversible weakness and wasting of the muscles.

There are more than 30 different types of muscular dystrophy. They are genetic conditions, which means that they are caused by an alteration within the genetic makeup. The genes causing the majority of cases of muscular dystrophy have been identified and the function of these genes have been studied. Many of the genes are involved in providing strength to the muscle structure.

There are approximately 30 other neuromuscular disorders that are often confused with muscular dystrophy, because they also cause muscle weakness. However, in these conditions, the muscle weakness is usually not caused by a problem within the muscles themselves, but by the nerves or motor neurons controlling them, or the supply of energy to the muscles. These include spinal muscular atrophy, neuropathies such as Charcot-Marie-Tooth disease, myasthenia gravis, and the myopathies (including metabolic, mitochondrial and inflammatory myopathies).

Causes and cure research into muscular dystrophy

Each of the approximately 30 muscular dystrophy diseases has a separate cause, and there is no cure. Medical research has led to a greater understanding of muscular dystrophy and potential treatments are beginning to emerge. Several of these are now in clinical trial. However, the discovery of a cure for one type of muscular dystrophy may not necessarily help in curing another type.

Diagnosis of muscular dystrophy

Diagnosis before the age of two or three (before symptoms are very obvious) is possible through:
• a blood test – this will show very high levels of a protein called creatine phosphokinase (CPK)
• genetic testing – if it is known that a condition runs in a family, a test to detect the genetic change can be performed on the DNA in the blood
• a muscle biopsy – removal of a small piece of muscle tissue for examination under a microscope
• electromyography (EMG) – checks the health of the muscles and the nerves that control the muscles. It involves inserting a very thin needle into the muscle.

Genetic counselling for muscular dystrophy

Genetic counselling is available to help people understand the hereditary nature of the disorder and the probable risk of them having a child with muscular dystrophy. Counsellors can help couples make an informed decision about having children and discuss options such as prenatal and preimplantation genetic diagnosis.

Symptoms and support needs vary

People affected by muscular dystrophy have different degrees of independence, mobility and carer needs. These needs will vary within each type of muscular dystrophy and between types. The most severe conditions cause major disability and shorten life expectancy, while the milder conditions do not present any symptoms until later in life and progress more slowly.

Treatment for muscular dystrophy

There is no cure for muscular dystrophy. To help ease discomfort, reduce joint contractures, and prevent or delay scoliosis, physiotherapists offer advice on stretches and exercises, and the prescription of orthoses and other orthopaedic devices. Occupational therapists also provide advice on sitting positions and activities. Such treatment can keep affected people walking for longer and maximise independence in daily living.

For some types of muscular dystrophy, medication can help manage the symptoms of the condition. For example, boys with Duchenne muscular dystrophy are usually prescribed corticosteroids, which can delay the need for a wheelchair by several years on average. However, the risk of side effects needs to be considered.

Types of muscular dystrophy

There are more than 30 different types of muscular dystrophy. The main types are:
• Duchenne muscular dystrophy
• Becker muscular dystrophy
• congenital muscular dystrophy
• limb-girdle muscular dystrophy
• facioscapulohumeral muscular dystrophy
• myotonic dystrophy
• oculopharangeal muscular dystrophy
• Emery-Dreifuss muscular dystrophy.