Family members of an individual with DMD 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 DMD.1
Carrier testing may help reduce the transmission of Duchenne muscular dystrophy and improve outcomes for women at risk.1-4 Click here for the 2018 Duchenne Care Considerations.
Central nervous system manifestations4
Adapted from references 3-5
The 2018 Duchenne Care Considerations recommend performing cardiac assessment in all female carriers in early adulthood every 3–5 years.3 This should consist of an electrocardiogram and non-invasive imaging. Assessments should be more frequent in those who are symptomatic or imaging-positive.3
Diagnosis of DMD in children takes an average of 2 years from parental concern. Therefore, carrier women may have more children without realising that they carry a DMD mutation.6-8
Carriers may be at risk of Duchenne muscular dystrophy symptoms.3 Learn about the importance of carrier screening for Duchenne muscular dystrophy here.
If a female carries the mutation in the dystrophin gene on one of the two X-chromosomes, she may also be affected by DMD. Approximately 10% of female carriers show some disease manifestations, with cardiac involvement a frequent finding.2,5
Adapted from MDA6
Duchenne muscular dystrophy primarily occurs in males, but can affect females in some cases.1,2 Learn about carriers of Duchenne muscular dystrophy; symptoms and care here.
They provide education about DMD 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
(excluding UK and Ireland)
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
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