Diagnosis

A physician formally diagnoses muscular dystrophy. A family history and a complete physical examination may provide answers about the muscle weakness that an individual is experiencing. Also, a doctor can provide advice about how a patient's symptoms will progress.  Diagnostic tests are used by the physician to aid in determining whether or not a person has muscular dystrophy and which form of the disease he/she has. Blood tests are used regularly to aid in diagnosis, and a blood test may be done to measure the level of certain enzymes in the blood. As muscle breaks down, these enzymes, especially creatine kinase (CK or CPK), are leaked into the blood stream and the resulting elevated levels are useful in determining a correct diagnosis. Using blood samples, DNA testing may also be performed. Here, the genetic material (DNA) may also be studied in some muscular dystrophies for disease diagnosis and carrier testing.

Another common diagnostic test is an electromyogram, a procedure in which small electrodes are placed into a muscle. This test may reveal electrical activity patterns that are characteristic of muscular dystrophy.  A muscle biopsy is yet another test that is commonly performed. With this test, doctors surgically remove a small piece of muscle tissue and examine it under a microscope.  In addition, special staining for the specific protein normally produced by the gene of interest (such as dystrophin protein staining in Duchenne and Becker muscular dystrophies) can now be performed for some of the muscular dystrophies.