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.
Filter by topic
Duchenne symptoms
Treatment & care
Resources for patients & caregivers
Genetic counselling
Genetics & inheritance
did you know icon


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

Learn more

Diagnosing Duchenne: Why is early diagnosis important?

Learn more

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

Learn more

Prenatal diagnosis: What is it and who is eligible?

Learn more

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

Learn more
did you know icon


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

Learn more

Developmental milestone checklist: A tool to support Duchenne recognition

Learn more

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

Learn more
Our Use of Cookies

In addition to cookies that are necessary to operate this website, we use optional cookies to provide website functionality and give you the best possible experience. We won't set optional cookies unless you enable them. For more detailed information see our Cookie Statement , which explains among others, how to set your cookie preferences and how to recall your consent.

Cookie Settings

Some cookies are essential, others help us improve your experience by providing insights into how the website is used. Select the cookie types listed below, and then save your preferences. Refer to our Cookie Statement for more information.

Strictly Necessary cookies
Strictly necessary cookies enable core functionality such as security, network management, and accessibility.

I accept the advertising/targeting cookies
Advertising/targeting cookies, which we use to track user activity and sessions so that we can deliver a more personalized service, and (in the case of advertising cookies) which are set by the third parties with whom we execute advertising campaigns and allow us to provide advertisements relevant to you.