Signs and symptoms of Duchenne muscular dystrophy (DMD)

Dr. Luca Bello discusses the importance of early diagnosis of DMD and how to recognise the early signs and symptoms (muscle weakness, not walking by 16-18 months, calf hypertrophy, cognitive and speech delay). If you suspect DMD, perform a creatine kinase (CK) test.

Click here to check the red flag signs and symptoms. If you suspect Duchenne muscular dystrophy, perform a creatine kinase (CK) test. Click here to learn more.

Reaching a Duchenne muscular dystrophy (DMD) diagnosis from an initial suspicion of the condition

Suspicion of DMD – next steps for diagnosis

Watch this video to hear from Dr. Luca Bello, Physician Neurologist from Padova, Italy discussing the diagnostic journey for a DMD patient. Starting with a creatine kinase (CK) test to the importance of an accurate diagnosis through genetic testing to enable the correct medical management options to be identified.

Don’t wait to investigate suspicions of Duchenne muscular dystrophy. Order a CK test, elevated CK levels should prompt referral to a neuromuscular specialist for further testing.

What are the early signs and symptoms of Duchenne muscular dystrophy?

The onset of symptoms occurs in childhood.1 Delayed motor milestones are the most noticeable signs in early childhood. Key symptoms can include:2
  • Delayed motor development2
  • Difficulty rising to stand or not walking well by 18 months1,3
  • Delayed speech and/or cognitive delay2

How a DMD child might rise from the floor: Gowers’ manoeuvre4–6

The difference in calf muscles of a healthy boy versus a boy with DMD

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Recognising red flag signs and symptoms

Developmental delay should trigger a creatine kinase (CK) test2,3

What is creatine kinase (CK)?

Creatine kinase (CK) is an enzyme found in skeletal muscle as well as in the heart, brain and other tissues. Increased amounts of CK are released into the blood when there is muscle damage.1 Elevated CK levels reflect muscle damage in patients with Duchenne muscular dystrophy, making it an important diagnostic marker for the condition.2

When to order a CK test

A CK test should be carried out if:

  • Examination and medical history suggest progressive muscle weakness1,3,4
  • A child has delayed motor function, such as not walking well or not able to rise to stand by 18 months1,3,5,6
  • A child shows developmental delay, including delays with mixed presentation (e.g. speech and cognition), and evaluation suggests a peripheral neuromuscular problem3
  • A child has a positive family history of Duchenne muscular dystrophy and suspicion of abnormal muscle function6
  • Blood tests reveal an unexplained increase in transaminases6

What the results mean1,6

IF CK IS ELEVATED
(Normal range is generally up to 250 U/L*)1
Refer to neuromuscular specialist for Duchenne muscular dystrophy gene testing6
IF CK IS NORMALDoes not rule out other neuromuscular disorders1

Developmental delay should trigger a CK test

Normal or mildly elevated CK levels do not rule out neuromuscular disease1

*The normal CK range is generally up to 250 U/L. Absolute values may differ between laboratories.1

Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families1,9

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