Carrier screening for Duchenne muscular dystrophy (DMD): why is it important and who is eligible?

Early detection means that women who are carrying the DMD mutation can:

  • Be offered genetic counselling, which can inform them about the risks of transmitting the mutated allele in future pregnancies2
  • Have the option of prenatal genetic testing2
  • Be made aware of alternative reproductive options, such as the use of donor eggs or human assisted reproduction with preimplantation genetic diagnosis (PGD)2
  • Undergo regular surveillance for cardiomyopathy from early adulthood5
  • Receive early cardiac treatment if heart involvement is detected3,4

Who is eligible for carrier analysis?

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.

1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
2. Bianco B, et al. Einstein (Sao Paulo). 2017;15:489–491.
3. Mavrogeni S, et al. World J Cardiol. 2015;7:410–414.
4. Adachi K, et al. J Neurol Sci. 2018;386:74–80.
5. Birnkrant DJ, et al. Lancet Neurol. 2018;17:347–361[Part 2].

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