The suspicion or diagnosis of Duchenne or Becker muscular dystrophy is overwhelming. You may encounter difficult or confusing questions, and some of your questions might be related to genetic testing. In addition to asking yourself what DMD is, and what it means for you and your family, you may also be asking, “Do I (or my child) need a genetic test, and how do I get one? What will it tell me about DMD, and what can’t it tell me? Should my family members be tested? Will the genetic test result help predict the disease into the future? Will treatment options differ depending on the genetic testing results? Who can help me understand and deal with all of this?”
DuchenneConnect developed the educational materials in this section to begin to answer these and other important questions about genetic testing. Genetic testing is now able to identify the cause of Duchenne and Becker muscular dystrophy in most people with the disorders, but several important issues remain. One issue is that many different forms of genetic testing are available. Each has benefits and limitations, and in some families more than one genetic test is necessary to identify the cause. Another issue is that many of our families have not been offered genetic testing, or had testing a long time ago when it was not as informative. Many people have not had access to genetic counseling to discuss testing options and explain test results, discuss risk to others in the family, and help with coping with muscular dystrophy. We provide materials on this site that can help you determine if genetic testing and counseling would be useful to you, and/or that allow you to work with your healthcare provider to identify a testing plan that you are comfortable with.
In today’s world where diagnoses are made earlier, care and management is better, and new therapies are on the horizon, genetic testing will become important for more than diagnosis and carrier testing. We provide information in this section that goes beyond helping you understand the benefits and limitations of genetic testing; topics include the potential for genetic information to affect access to research studies and treatment decisions.