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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.

Unsure if you should be concerned about delays in your child’s physical developmental?

Often parents bring concerns regarding their child’s physical developmental to the attention of their child's doctor, only to find that the doctor is not overly concerned.

The American Academy of Pediatrics (AAP) recognizes that parents are the best people to listen to when it comes to developmental concerns. In order to address these concerns, the AAP has developed a tool, with input from Parent Project Muscular Dystrophy, to let parents know when they should not be concerned, when they should be concerned, and when they should make sure that their child's doctor is paying attention and investigating their concerns

If you have concerns about your child’s physical development (i.e., sitting, crawling, walking, etc.), please use this tool to determine whether you should be concerned at this time and how to follow up on your child’s progress.


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.

Have you had trouble getting genetic testing?

Through Decode Duchenne, PPMD's DuchenneConnect program provides FREE genetic testing to Duchenne and Becker muscular dystrophy patients who who otherwise could not afford genetic testing.. View the Decode Duchenne participation requirements.

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