Who is tested for muscular dystrophy

Muscular Dystrophy. National Library of Medicine. March 20, Muscular Dystrophy: Diagnosis. Mayo Clinic. January 31, Diagnosing Muscular Dystrophy.

NYU Langone Health. Early Diagnosis and Duchenne Newborn Screening. Muscular Dystrophy UK. By subscribing you agree to the Terms of Use and Privacy Policy. Health Topics. Health Tools. Genetic Diseases. By Brian P. Reviewed: June 25, Medically Reviewed. The affected child inherits two copies of the altered gene — one from each parent. Many people think that muscular dystrophy is exclusively a childhood condition. However, it can occur at any point in life. As well as myotonic dystrophy and FSH, there are three other types of muscular dystrophy that can occur later in life:.

Early diagnosis of muscular dystrophy will enable the most appropriate management of the condition from a young age. 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, males 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. If your child or another family member has been diagnosed with muscular dystrophy, or if it runs in your family, it may be helpful to speak to a genetic counsellor.

Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand muscular dystrophy and what causes it, how it is inherited, and what a diagnosis means for your child's health and development, and for your family.

Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs. If muscular dystrophy runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members.

You may choose to visit a genetic counsellor if you are planning a family — to find out your risk of passing the condition on to your child, or to arrange for prenatal tests. Read more about genetic testing for muscular dystrophy. The Genetic Support Network of Victoria GSNV is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by muscular dystrophy.

This page has been produced in consultation with and approved by:. The abdominal muscles support the trunk, allow movement and hold organs in place by regulating internal abdominal pressure. Acromegaly is caused by an excess of growth hormone in adults, which causes the overgrowth of bones in the face, hands, feet and internal organs.

Exercise can prevent age-related changes to muscles, bones and joints and can reverse these changes too. A person with amyloidosis produces aggregates of insoluble protein that cannot be eliminated from the body. The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood. Content on this website is provided for information purposes only.

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Genetic conditions. Home Genetic conditions. Muscular dystrophy. Actions for this page Listen Print. Summary Read the full fact sheet. On this page. What causes muscular dystrophy? Types of muscular dystrophy Duchenne and Becker muscular dystrophy Facioscapulohumeral dystrophy FSH Myotonic dystrophy Congenital muscular dystrophy Late onset muscular dystrophies Diagnosis of muscular dystrophy Treatment for muscular dystrophy Genetic counselling for muscular dystrophy Genetic testing for muscular dystrophy Where to get help.

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 oculopharyngeal muscular dystrophy Emery-Dreifuss muscular dystrophy.

From one type of muscular dystrophy to another, there is variation in: the severity of the muscle degeneration which muscles degenerate. It also helps doctors do a better job of treating the mechanisms underlying the condition and its symptoms. Diagnosing the more common forms of muscular dystrophy tends to be easier. One of the first diagnostic exams a neurologist is likely to recommend is a blood test to check for levels of a protein called creatine kinase, or CK.

CK is an enzyme that muscles release into the bloodstream when they are damaged. The level of CK in the blood is elevated in patients with muscular dystrophies. A CK test is not enough to confirm a muscular dystrophy diagnosis, however. The reason is that CK levels vary by age, gender, and race, and can even be elevated after a strenuous workout. A CK test can indicate whether muscle damage has occurred, and how much, however. Different tests can help healthcare providers diagnose MD and determine which type of MD is present.

The tests also may rule out other problems that could cause muscle weakness, such as injury, toxic exposure, medications, or other muscle diseases. These tests may include: 1. These tests may include: 1 Blood tests to measure levels of certain substances that may be high in someone with MD.