Awareness is Key: What Everyone Should Know About Duchenne Muscular Dystrophy
Diagnosis of Duchenne muscular dystrophy
One of the bases for diagnosis is the symptoms previously stated. For parents, they should also observe the way their child runs or gets up from the ground since the weakness of the muscles are apparent when their child performs these movements.
Medical tests are done to formally diagnose it. A blood test is performed first to check the amount of creatine kinase. DMD patients have an extremely high level of creatine kinase within them. If the result is normal, parents can feel relieved, however, more confirmatory tests need to be conducted in order to know if this is due to DMD or other health condition.
A biopsy of the muscle is done after the blood test. A sample of a muscle will be taken to check the muscle fibers for the dystrophin protein. Genetic tests, which often give the confirmatory result, are obtained from blood. This is to see if the dystrophin gene is present.