Genetic testing is also the only method for determining a patient’s specific mutation type.1,2
While genetic testing is used to confirm Duchenne, the pathway to diagnosis usually starts with a creatine kinase (CK) test. In the video below, Physician Neurologist Dr. Luca Bello describes the key steps in reaching a Duchenne diagnosis from an initial suspicion of the condition.
The 2018 Duchenne care considerations recommend screening patients with increased creatine kinase (CK) levels who have:1
While there is no cure for Duchenne, early intervention may help:1,5–7
Additionally, once a mutation is identified, female relatives can find out their carrier status. This is important for two main reasons:2
Female carriers can pass on Duchenne to their childrenFind out more
Female carriers need medical assessment and follow-upFind out more
Early detection means that women who are carrying the Duchenne mutation can:
5 reasons to refer Duchenne families to a genetic counsellor:12–14
They provide education about Duchenne and its therapeutic options
They can coordinate diagnostic genetic testing
They can establish who is at risk of being a carrier and organise carrier genetic testing
They can discuss family planning options
They provide emotional counselling
This information is for EU Healthcare Professionals only and not intended for UK nor Ireland Healthcare Professionals. By clicking OK you are confirming that you are a Healthcare Professional based in the EU
If you are not a Healthcare Professional, visit Duchenne and You for more information on signs and symptoms and support following a Duchenne diagnosis.
And because diagnosis can be delayed by an average of 2 years, carrier women may have more children without realising that they carry a Duchenne mutation.5,17,19
Central nervous system manifestations10
Approximately 10% of female carriers show some disease manifestations, with cardiac involvement a frequent finding.21,22
The 2018 Duchenne care considerations recommend performing cardiac assessment in all female carriers in early adulthood every 3–5 years. This should consist of an electrocardiogram and non-invasive imaging. Assessments should be more frequent in those who are symptomatic or imaging-positive.11
Family members of an individual with Duchenne should receive genetic counselling to establish who is at risk of being a carrier.1
Carrier genetic testing should be performed in female relatives of a boy or man who has been genetically confirmed to have Duchenne.1
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