Muscular Dystrophy
(Duchenne Muscular Dystrophy · Becker's Muscular Dystrophy · Facioscapulohumeral Muscular Dystrophy · Limb-Girdle Muscular Dystrophies)
In this condition factsheet:
Diagnosing Muscular Dystrophy
If a person has weak muscles that become weaker over time, they may have muscular dystrophy. High levels of a chemical called creatine kinase (CPK) found in the blood may also help diagnose muscular dystrophy. High levels of creatine kinase don't give a definite diagnosis, since many other muscle diseases can also cause this.
Testing for very low levels of dystrophin in the muscles can also be used to diagnose Duchenne muscular dystrophy. For other types of muscular dystrophy, specific blood tests can be done to help your doctor determine which type of muscular dystrophy you have.
A test called a nerve conduction study involves passing tiny electrical shocks through nerves. The nerve conduction study is performed along with a test called electromyography (EMG). EMG involves inserting a needle-like probe to detect abnormal spontaneous muscle activity. These studies can be performed to test whether the muscles and nerves are working properly.
A muscle biopsy may also be used to help with diagnosis. In this procedure, a doctor surgically removes a small piece or sample of the muscle and looks at it under the microscope. A muscle with muscular dystrophy has many dead and abnormally large muscle fibres. As the disease progresses, the dead muscle is replaced with fat and other kinds of tissue.
Genetic counselling can help with making the diagnosis. It can also open the way to clinical trials. Couples who have a history of muscular dystrophy in their families may want to go for genetic counselling to identify the carriers of the affected gene(s). It can also help with family planning. The counsellor will help determine the risk of having a child with the disease and will give guidance on how to proceed. In spite of the many advances made in genetics of muscular dystrophy, the responsible gene(s) cannot be identified in up to half of patients.
Treating and Preventing Muscular Dystrophy
There is no cure for muscular dystrophy, but exercise and physical therapy can keep the muscles from tightening up around the joints. Assistive devices such as ankle and leg braces or wheelchairs can also help people with muscular dystrophy. People with Duchenne muscular dystrophy can take a corticosteroid medication (like prednisone) to improve muscle strength and function as well as reduce the progression of scoliosis (a curvature of the spine). Every effort should be made to prevent viral infections that could progress to pneumonia.
All material copyright MediResource Inc. 1996 – 2024. Terms and conditions of use. The contents herein are for informational purposes only. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Source: www.medbroadcast.com/condition/getcondition/Muscular-Dystrophy
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