Reasons, Procedure & Preparation For Duchenne Muscular Dystrophy Testing

Submitted on March 27, 2012

Muscular dystrophy is a disease in which the muscles of the body degenerate progressively. Nearly all forms of muscular dystrophy are genetic and completely incurable. These diseases will cause the death of the patient at an early age with the patient rarely being able to cross the age of 40 in the best case scenario. Two types of muscular dystrophy include Duchenne Muscular Dystrophy and Becker Muscular Dystrophy. Since these are genetically transmitted disease, the early tests for the presence of these conditions are undertaken with genetic testing, and with a creatine kinase test that measures muscle wastage.

Duchenne Muscular Dystrophy Testing

Duchenne is tested for with a DNA carrier testing for Duchenne Muscular Dystrophy. Between the two dystrophies: Duchenne and Becker, Duchenne is the worse of the two situations. In both of these diseases, the amount of a protein called dystrophin is affected. When dystrophin production is deficient, to the effect of the deficiency, one could end up with either dystrophy. Duchenne manifests with no dystrophin creation while Becker’s manifests with deficient creation.

Reason Why It is Conducted

Carrier testing for Duchenne muscular dystrophy is performed with a DNA test and confirmation of a creatine kinase elevated level. DMD is usually found in carrier females on an X-linked recessive gene. The chances of it being passed on to an affected male are one in four and being a female carrier is also one in four. This disease is most commonly present in males because the gene for DMD is in the sex-linked area of a male chromosome.


Duchenne muscular dystrophy DNA carrier testing is a test that is done by taking a tissue sample or a sample of bodily fluids from which DNA can be extracted. Becker muscular dystrophy testing is conducted in much the same way and most of the diagnostic criteria between DMD and BMD are the same because of the similar pathophysiology of the disease. The only difference between the two lies in the amount of dystrophin deficiency that is associated with the disease.


There is no preparation when testing for Duchenne muscular dystrophy. This is a genetic test and nothing can really interfere with the test; however, it is important to note that once the test results come back as positive, a patient has to be mentally prepared for the consequences of the disease that include, massive muscular degeneration causing trouble in movement, breathing, digestion, heart function, and eventually death.