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Early clues that can point to Duchenne

Turning point

Cardiac disease

Gowers’ maneuver

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Daniel Guillen, MD, discusses some of the early signs that may raise suspicion for DMD, including elevated CK levels, speech delays, and abnormal laboratory findings. Learn why these clues can help support earlier recognition and diagnosis.

If a young boy presents with speech delay and high creatine kinase (CK), should we still suspect DMD?

Transcript

What I would say even is if you have high C.K., particularly above the 1000 level, 2000, 3000 or much higher even, looking into Duchenne muscular dystrophy is important.

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The speech is a common component because even as physicians, we sometimes forget that Duchenne muscular dystrophy also affects the brain in some percentage of boys and may cause for them to have other cognitive developmental delay. So it’s not only weakness there. There are several other effects around the body with muscular dystrophy.

But at this age, this may be the two things that we see first.

And even not just thinking about C.K., but transaminase is the markers that we look for liver injury. There are a lot of transaminases in the muscle, so sometimes they are incidentally found because transaminases may be high, but they’re actually not a reflection of liver disease but muscle disease.

The Gowers’ maneuver in Duchenne
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