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How Duchenne is Identified
Newborn screening is able to detect Duchenne muscular dystrophy, but there are still many issues that need to be considered by the National Institutes of Health (NIH) before widespread newborn screening will be available.
Parents or teachers are often the first to notice the early signs of Duchenne, such as speech delay, enlarged calf muscles, and the inability to keep up with peers.
There are reliable tests to help doctors diagnose a boy with Duchenne. The following tests are typically used to confirm a preliminary diagnosis of Duchenne:
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.