How is Duchenne muscular dystrophy diagnosed?

Identification of signs and symptoms1

If Duchenne muscular dystrophy (DMD) is suspected, the first thing your family doctor will do is perform a physical exam to check for muscle weakness.

They will also ask about delays in early developmental milestones, such as sitting, walking and standing up from the floor.

Blood test1,2

If your child or young person shows signs and symptoms of DMD, your doctor will usually recommend a special blood test called a creatine kinase (CK) test. This involves taking a small sample of blood, which will be sent to a lab for analysis.

Referral to a specialist2

If your doctor becomes concerned that your child or young person needs further testing, they will usually refer them to a specialised centre or neuromuscular specialist.

Specialist doctors will then work through a careful diagnostic process to identify the cause of the symptoms and may recommend a variety of tests.

Genetic test2,3

If your child or young person has high CK levels, another sample of blood may be taken to test for changes in genes (called mutations) that cause DMD. These genetic tests may confirm or rule out DMD.

If your child or young person DOES have DMD:

Resources and therapies are available to help manage symptoms and possibly slow down the progression of the condition.

If your child or young person DOES NOT have DMD:

Your doctor will do more investigations into what else could be causing symptoms.

Different genetic tests can also tell your doctor about the type of mutation your child or young person has. This is important because different resources and therapies are available to manage different mutations.

What is a CK test?

A CK test checks for an enzyme called creatine kinase, or CK. When muscle fibres are damaged, CK leaks out into the bloodstream. The muscle damage caused by DMD means that the level of CK in the blood will often be higher than normal.2,3

High CK levels in the blood do not automatically mean that your child or young person has DMD. Genetic testing is the only way to confirm a DMD diagnosis.

Make an appointment to see your child’s doctor. The doctor can arrange a special blood test, called a CK test, that can help rule out certain conditions, or let you know if further tests are needed

1. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.
2. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
3. Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.

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