Duchenne Signs & Diagnosis

In general, more than 80% of the time, caregivers who are concerned about their child’s developmental progress are found to be correct about knowing something is wrong.1 Your role in collecting this information and taking timely action are vital to delay the progression of Duchenne muscular dystrophy.

The topics covered in this section are designed to support the recognition of early signs and symptoms, the importance of diagnosis and can further improve your confidence in discussing Duchenne muscular dystrophy with worried parents and caregivers.

  1. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
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Diagnosis
Signs & symptoms
Creatine kinase (CK)
Genetic testing
Management
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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].
 

Signs and symptoms: Recognising the early signs and symptoms of Duchenne muscular dystrophy

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Expert insights: Dr Luca Bello's expert opinion on identifying the key signs and symptoms of Duchenne muscular dystrophy

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Expert insights: Dr Luca Bello's expert opinion on reaching a Duchenne muscular dystrophy diagnosis from initial suspicion

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Creatine kinase (CK): A guide to CK testing and interpreting the results

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Genetic diagnosis: Learn about the importance of genetic testing in diagnosis

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DID YOU KNOW..?

Genetic counselling offers many benefits for families living with Duchenne muscular dystrophy

References

Helderman-van den Enden AT, et al. Clin Genet. 2011;79:236–242

Diagnosis: Learn about the importance of early diagnosis

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Carrier testing: Learn about the importance of carrier screening

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Genetic counselling: How it can help families affected by Duchenne muscular dystrophy

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