What Is McArdle Disease?
9. Diagnosis
Initial diagnosis will involve the doctor asking about your lifestyle, your symptoms, and your medical history. If McArdle disease, or similar, is suspected, then you will be referred to a specialist. A specialist can request tests that will help to confirm the conditions.
Tests include an electromyography, which will measure the electrical activity in the patient’s muscles. An MRI may be performed, and a sample of the patient’s muscle tissue. Other tests for the condition include looking for myoglobin in urine, looking for lactic acid in blood, and genetic testing. A serum creatine kinase test may also be performed, and experts may also look for plasma ammonia.
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