Diagnosis

If you and your doctor suspect that your child or young person is showing possible signs of Duchenne muscular dystrophy (DMD), there is a recognised series of investigations that will allow the doctor to make a diagnosis.1–4 Signs and symptoms, blood test for an enzyme called creatine kinase (CK), specialist referral and genetic testing all form their own part of the diagnosis pathway.1–4 It is important to know that not all people with raised CK levels have DMD, and this test is only part of the work-up to diagnosis.1–4 You can find out more about the pathway to diagnosis, and three ways you can help, by keeping track of information in the articles here.

Early diagnosis is important to make sure that children with DMD receive the best care to slow down the progression of the disease as much as possible.1–3 There are a number of other benefits to early diagnosis, including financial assistance, and information on these is covered in this section.

For those with a child or relative with DMD, it may be possible to have a genetic test during pregnancy to find out whether the baby has DMD.3,5 Here you can read more about when such a test might be possible and the reasons for checking.

Receiving a diagnosis of DMD is an emotional time for parents and carers, and one courageous mother has shared her story of what it meant for her and her family so that others can read and learn from her experience.

  1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
  2. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.
  3. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
  4. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Guide for primary care providers. Available at https://childmuscleweakness.org/wp-content/uploads/2019/05/PrimaryCareProviderPacket.pdf [last accessed March 2021].
  5. Bianco B, et al. Einstein (Sao Paulo). 2017;15:489–491.
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DID YOU KNOW..?

Being aware of developmental milestones is an important consideration for your child’s health. While developmental delay may be nothing to worry about, it can sometimes be a sign of a muscle disorder

Diagnosing Duchenne: Learn about how Duchenne is diagnosed

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Diagnosing Duchenne: Why is early diagnosis important?

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Your stories: A mother’s account of family life after receiving a Duchenne muscular dystrophy diagnosis for her son

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Prenatal diagnosis: What is it and who is eligible?

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Diagnosing Duchenne: Is it Duchenne? What to do if you suspect something is wrong

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