When it comes to diagnosis and evaluation of myopathy, a neuromuscular specialist has to be consulted. This specialist will be aware of the latest diagnostic tools and treatment methods for myopathy. (See Reference 1) The diagnosis of myopathy will involve the person to have several tests to find out what kind of myopathy is afflicting the person. At times, no tests may be performed till the disease progresses so that it can be identified. (See Reference 1)

The diagnosis and evaluation of myopathy is done using the following methods:

Medical History: A full medical history of the family will be taken to figure out whether the myopathy was inherited by the person

Clinical Evaluation: The specialist will ask the person about the symptoms that he or she is experiencing. Generally, in the early stages of myopathy, a person experiences weakness of the muscles, pain in the muscles, experiencing pain in the muscles while doing exercise and experiencing muscle fatigue. Some people may also have problems walking, difficulty in getting out of a chair. Once the specialist knows about the symptoms, he or she will begin a clinical evaluation that will involve checking for abnormalities of hormones, problems related to the heart, mental dysfunction, a particular pattern for the weakness of the muscles, atrophy of the muscles, and rash on the skin. (See Reference 1)

Neurological Evaluation: After the clinical evaluation, the specialist will perform a neurological evaluation that will involve the testing the patient for the following:

• The capacity of the person to move from sitting to standing position
• The ability to walk
• Co-ordination
• The reflexes of the deep tendons

The neurological evaluation could also involve a test to check whether the muscles can relax after they contract. Here, the specialist will request the person to squeeze his hands tight and then check to see whether the muscles fail to relax. (See Reference 1)

Blood Test: A blood to check the amount of muscle protein circulating in the blood is done. This test is known as the serum enzyme test and is useful just in the initial phase of the disease when there is a sudden rise in the level of the muscle protein in the blood. Some of the muscle proteins that the specialist will check include creatine kinase, lactic dehydrogenase and pyruvate kinase. As the disease worsens, there is less muscle protein circulating in the blood and thereafter, the levels drop to normal. (See Reference 1)

The specialist may order a DNA test to see whether the myopathy is caused due to a genetic defect. (See Reference 1)

A blood test can also help to identify inflammatory myopathy, endocrine myopathy and Duchenne muscular dystrophy. (See Reference 1)

Electromyogram: This test checks the amount of electrical activity of the muscles. A tiny needle is inserted into the muscle and then the electrical activity is recorded. The test helps to identify the muscles that are experiencing weakness, and usually used to diagnose myotonia and/or paramyotonia congenita. (See Reference 1)

Biopsy of the Muscle: A small amount of the muscular tissue is removed so that it can be checked under the microscope for abnormalities related to cells and proteins. This test is useful in diagnosing myopathies such as nemaline myopathy or myotubular myopathy. (See Reference 1)

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