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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.

Observation

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.

Tests/screens

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:

  • Creatine Kinase: Creatine phosphate kinase (also known as CPK or CK) is an enzyme that normally lives inside muscles. Boys with Duchenne often have CK levels 10 to 100 times the normal range. Elevated CK levels indicate muscle damage, although a high CK does not confirm a diagnosis of Duchenne.
  • Genetic Testing: Genetic testing (using blood cells or muscle cells) is the best way to obtain exact genetic information for a conclusive Duchenne diagnosis. The field of genetic testing is rapidly evolving, and there are several types of testing that provide accurate genetic diagnosis.

Find out more information on genetic testing and genetic counseling options at DuchenneConnect.org, or learn about How Duchenne Progresses overtime.

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.

Related links

DuchenneConnect.org

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