Diagnosing Duchenne: does my child have Duchenne?

Every Duchenne family has a different story. Many receive a diagnosis only after months or years of doctor visits. Every child develops at his own pace, so a pediatrician may not take immediate action when your child is slow to sit, stand, or walk. However, over time, the delays seen in children with Duchenne become more worrisome.

The diagnostic process often involves a series of steps to confirm Duchenne. Getting a formal diagnosis and understanding your child's specific mutation is a critical step in determining a path for care, whether that is managing the disease or participating in clinical trials for possible treatments.

How is Duchenne diagnosed?

Only a doctor can accurately diagnose a child with Duchenne. If your family's pediatrician becomes concerned that your child needs further testing, the first step may be a referral to a specialist — typically a pediatric neurologist or neuromuscular expert. These specialists will work to identify the cause of your child's symptoms, and may recommend a variety of tests.

Common steps many families experience include:

  • Observing signs
    and symptoms

  • Blood tests to
    determine enzyme
    levels (creatine
    kinase, or CK, test)

  • Referral
    to a specialist

  • Genetic
    testing

  • Muscle biopsy
    (if needed)

DIAGNOSTIC TESTS: A CLOSER LOOK

Type of test What it measures What it entails When it's typically used
CK test The amount of an enzyme, creatine kinase, in the blood. Creatine kinase typically leaks out of damaged muscle cells. High levels in the blood may suggest a muscle problem, but cannot confirm Duchenne. A blood test This is often the first step to see if genetic testing is needed.
Genetic testing Analyzes an individual's DNA to see if there is a mutation in the dystrophin gene. If there is a mutation, it can tell you what kind of mutation it is. A blood test If there are elevated CK levels with a suspected Duchenne diagnosis, a genetic test may confirm the diagnosis.
Muscle biopsy Shows the presence, absence, amount, and location of dystrophin in muscle tissue. A procedure performed under local anesthetic in which a sample of muscle tissue is removed and sent for testing. Some pain maybe experienced after the procedure. If genetic testing does not confirm Duchenne, a muscle biopsy may be used to gather more information. Most patients do not require a muscle biopsy anymore due to modern advances in genetic testing.
  • CK test

    What it measures: The amount of an enzyme, creatine kinase, in the blood. Creatine kinase typically leaks out of damaged muscle cells. High levels in the blood may suggest a muscle problem, but cannot confirm Duchenne.

    What it entails: A blood test

    When it's typically used: This is often the first step to see if genetic testing is needed.

  • Genetic testing

    What it measures: Analyzes an individual's DNA to see if there is a mutation in the dystrophin gene. If there is a mutation, it can tell you what kind of mutation it is.

    What it entails: A blood test

    When it's typically used: If there are elevated CK levels with a suspected Duchenne diagnosis, a genetic test may confirm the diagnosis.

  • Muscle biopsy

    What it measures: Shows the presence, absence, amount, and location of dystrophin in muscle tissue.

    What it entails: A procedure performed under local anesthetic in which a sample of muscle tissue is removed and sent for testing. Some pain maybe experienced after the procedure.

    When it's typically used: If genetic testing does not confirm Duchenne, a muscle biopsy may be used to gather more information. Most patients do not require a muscle biopsy anymore due to modern advances in genetic testing.

Common questions about genetic testing

You have a confirmed Duchenne diagnosis. What's next?

Receiving the news that your child has been diagnosed with Duchenne is always difficult. There will likely be a period of sadness and adjustment as you learn more about the effect the disease can have on your child and your family. However, families living with Duchenne have built a strong and supportive community that is willing to help.

It is important and often empowering for families to educate themselves on the diagnosis. Speak to your child's doctor, and perhaps a genetic counselor, who can help you understand what this diagnosis means for your family. Then, if you feel ready, reach out to one of the many organizations for families who are living with Duchenne. There are many resources that can help you navigate through the stages, and empower you with the tools and information you need to prepare for what's ahead.

You may also wish to visit a specialist clinic or care center with experience in treating Duchenne. The two main groups in the United States are:

  • Muscular Dystrophy Association Clinics. These clinics are located throughout the country and have specialists that diagnose and treat diseases like Duchenne. Learn more about the MDA
  • Parent Project Muscular Dystrophy (PPMD). PPMD's Certified Duchenne Care Center Program helps centers maintain the highest standards in clinical and sub-specialty services, and rapidly apply new evidence-based knowledge. They follow standards in clinical care that were established by the US Centers for Disease Control and Prevention's DMD Care Considerations Working Group. Explore their locations
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