Home > Duchenne Signs & Diagnosis

Diagnosis

Genetic testing is used to confirm a diagnosis of Duchenne muscular dystrophy (DMD) and identifies the specific type of mutation.1,2 Knowing the mutation type can be helpful for medical management options and the possibility of enrolling into clinical trials.2 A genetic carrier screening test should be performed in female relatives of a boy or man who has been genetically confirmed to have DMD.1

Do you need to refresh your knowledge on genetic testing for DMD? Find out more about the process for obtaining a diagnosis and the types of tests involved.

References
  1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
  2. Aartsma-Rus A, et al. J Med Genet. 2016;53:145–151.
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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].
 

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

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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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Neuromuscular disorders: What to do if you suspect a neuromuscular disorder

Learn more

Listen to Dr Annemieke Aartsma-Rus's expert opinion on genetic diagnosis in Duchenne muscular dystrophy

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© 2020 PTC Therapeutics. GL-DMD-0230 | Date of preparation December 2020

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