Duchenne aetiology & genetics

Do you know what causes Duchenne muscular dystrophy? What is the role of dystrophin in muscle cells? Is it important to know what type of mutation my patient has?

Knowing the pathophysiology of Duchenne muscular dystrophy will help you to understand the manifestation of the clinical signs and symptoms.

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Children demonstrating red flag signs and symptoms such as significant development delay could have Duchenne  muscular dystrophy

References

Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267. 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 November 2020].
 

Aetiology and genetics: Learn what causes Duchenne muscular dystrophy

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Aetiology and genetics: Learn what types of mutations cause Duchenne muscular dystrophy

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Aetiology and genetics: Learn how Duchenne muscular dystrophy is inherited

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