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.
Filter by topic
Diagnosis
Genetic testing
Management
Carriers
Creatine kinase (CK)
More
did you know icon

DID YOU KNOW..?

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

Learn more

Diagnosis: Learn about the importance of early diagnosis

Learn more

Carrier testing: Learn about the importance of carrier screening

Learn more

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

Learn more
PTC Logo

This site is intended for healthcare professionals residing in the EU only (excluding UK and Ireland healthcare professionals).
© 2020 PTC Therapeutics. GL-DMD-0230 I Date of preparation December 2020

This site is intended for Healthcare Professionals residing in the EU

(excluding UK and Ireland)

I am a Healthcare Professional

Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis

Visit Duchenne and You

PLEASE GIVE US YOUR FEEDBACK

Yes No
Cancel Ok

Please ensure all questions are answered before submitting

When providing your feedback, no personal information will be collected, linked or shared with other parties, websites or social media platforms.

Thank you for submitting your response!

Our Use of Cookies

In addition to cookies that are necessary to operate this website, we use optional cookies to provide website functionality and give you the best possible experience. We won't set optional cookies unless you enable them. For more detailed information see our Cookie Statement , which explains among others, how to set your cookie preferences and how to recall your consent.

Cookie Settings

Some cookies are essential, others help us improve your experience by providing insights into how the website is used. Select one or more of the cookie types listed below, and then save your preferences. Refer to our Cookie Statement for more information.

I accept the functional cookies
Functionality cookies, which allow us to enhance your experience (for example by remembering any settings you may have selected).

I accept the advertising/targeting cookies
Advertising/targeting cookies, which we use to track user activity and sessions so that we can deliver a more personalized service, and (in the case of advertising cookies) which are set by the third parties with whom we execute advertising campaigns and allow us to provide advertisements relevant to you.