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Testing for Duchenne
Unfortunately, once a child is born with Duchenne, its progression cannot be stopped. However, once there is a known case of Duchenne within a family, it is possible to offer prenatal diagnoses in future pregnancies (for both the mother of the diagnosed child and for other women in the family) through genetic testing.
Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person’s risk of developing a disease. For expectant mothers, genetic studies performed during pregnancy can detect Duchenne with about 95% accuracy. Doctors may make recommendations about childbearing options.
Before testing, families should understand:
Visit DuchenneConnect.org for more information about testing and counseling options.
Have you had trouble getting genetic testing?
Through Decode Duchenne, PPMD's DuchenneConnect program provides genetic testing to Duchenne and Becker muscular dystrophy patients who have been unable to access genetic testing in the past due to financial barriers. Decode Duchenne is sponsored by Sarepta Therapeutics. View the Decode Duchenne participation requirements.