Duchenne Symptoms & Diagnosis

Often the first signs of Duchenne muscular dystrophy (DMD) involve children not reaching developmental milestones when expected. Frequently a delay in development is nothing to worry about because every child develops differently and there is a wide range of what is considered to be ‘normal’.

What are the signs of DMD? If your child is not walking well by 18 months, or cannot get up from the floor to stand, it may be a sign of a muscle problem.1–3 However, some of the common signs of DMD are not always easy to identify, so this section also includes information on identifying and recognising the early signs and symptoms. Resources include a developmental milestone checklist that you might find helpful to track your child’s development, a video demonstrating what the symptoms could look like in day-to-day life, and useful tips to help you discuss your concerns with your child’s doctor.

There are several steps involved in diagnosing DMD. The first step is to identify the signs and symptoms of DMD, which is followed by a blood test called a creatinine kinase (CK) test.2 If the doctor is concerned about your child or young person, often they refer them to a neuromuscular specialist.2 Genetic testing is used to confirm or rule out DMD.3

The information in this section will help you to understand what is involved to reach a timely and accurate diagnosis. The earlier the diagnosis, the sooner your child or young person can start to receive medical care and treatment.3,4 This is important because the sooner treatment begins, the more potential there is for slowing down the disease and helping to preserve muscle function for as long as possible.3,4

  1. WHO Multicentre Growth Reference Study Group. Acta Paediatr Suppl. 2006;450:86–95.
  2. 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].
  3. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
  4. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
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did you know icon

DID YOU KNOW..?

The first noticeable signs of Duchenne muscular dystrophy are that a child does not reach developmental milestones when expected. These milestones include lifting their head, sitting, walking and talking

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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Genetic counsellors: What does a genetic counsellor do and how do they help families with Duchenne?

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did you know icon

DID YOU KNOW..?

If your child or young person shows signs and symptoms of Duchenne muscular dystrophy, your doctor can arrange a simple blood test that can help rule out certain conditions, or let you know if further tests are needed

Duchenne signs and symptoms: When to suspect Duchenne muscular dystrophy

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Developmental milestone checklist: A tool to support Duchenne recognition

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Video: Watch this to see what Duchenne muscular dystrophy signs and symptoms may look like in day-to-day life

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