Muscular Dystrophy - Diagnosis

Diagnosis begins with a medical history and a complete physical examination. A medical history is important to find out if dystrophy has occurred in other family members. Since the disorder is hereditary, family patterns are helpful in diagnosing the condition. A physical examination is necessary to rule out conditions with similar symptoms.

A number of laboratory tests are available for diagnosing MD. These tests include:

• Blood levels of creatine kinase (CK; pronounced KREE-uh-teen KIE-nase). CK is an enzyme present in muscle tissue. Its production increases when muscle tissue is damaged.
• Muscle biopsy. A biopsy is a procedure by which a small sample of tissue is removed with a needle. The sample can then be studied under a microscope. Changes in muscle tissue can be observed, indicating the presence of a dystrophy.
• Electromyogram (EMG; pronounced e-LEK-tro-my-o-gram). An EMG is an electrical test to see how well muscles are functioning. If muscles do not respond normally to the test, a dystrophy may be present.
• Genetic tests. It is now possible to examine the genes present in a person's cells and identify genes that are faulty.
• Other tests for specific forms of MD. Specific tests can be conducted for certain types of MD. For example, a hearing test can be used to help diagnose FSH in children.

Most doctors with experience in dealing with MD can diagnose the disorder quite easily. In some cases, however, MD can be confused with other diseases that have similar symptoms. For example, the disorder known as myasthenia gravis (pronounced MY-uhs-THEE-nee-uh GRA-vuhs) affects the site where nerves and muscles come together. Its symptoms are somewhat similar to those of some forms of MD.