If a pediatrician suspects that a child may have Muscular Dystrophy (MD), they will likely begin by testing the Creatine Kinase (CK) level in the blood. This muscle enzyme is very high in children with MD.

After finding a high CK level, the pediatrician will likely do DNA testing to look for mutations in the gene that makes Dystrophin, an important muscle protein. If this genetic testing is negative, then a muscle biopsy may be done to confirm the diagnosis of MD.

Although it is possible to screen newborns for MD by testing their level of creatine kinase, it is not routinely done. One of the big problems is that only about 10% of newborns with a high CK level will actually have MD. The other 90 percent will have CK levels that return to normal when they are a few weeks old.

Often, there is a loss of muscle mass, which may be hard to see because some types of MD cause a buildup of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

Diagnosis – once the clinical evaluation is done, the clinician confirms the type and nature of the disease by

  1. Elevated levels of CK in blood.
  2. Blood Tests – DNA Analysis.
  3. Muscle Biopsy if need be with immunohistochemistry staining.