GENETIC TESTING CAN CONFIRM DUCHENNE1,2

Genetic testing is also the only method for determining a patient’s specific mutation type.1,2

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This is important because a specific genetic diagnosis may help identify medical management options and potential to enrol into clinical trials.2
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WHOM TO TEST

test tube

The 2018 Duchenne care considerations recommend screening patients with increased creatine kinase (CK) levels who have:1

  • Positive family history of Duchenne + suspicion of abnormal muscle
  • Developmental delay, such as not walking by 16–18 months, Gowers’ sign or toe walking
  • Unexplained increase in transaminases
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HOW TO TEST

how to test how to test
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THE IMPORTANCE OF EARLY DIAGNOSIS

While there is no cure for Duchenne, early intervention may help:1,5–7

The importance of early diagnosis in delaying disease progression
Delay disease progression
The importance of early diagnosis in preserving muscle function for as long as possible
Help preserve muscle function for as long as possible
The importance of early diagnosis in extending survival
Extend survival

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

Female carriers can pass on Duchenne to their children

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Female carriers need medical assessment

Female carriers need medical assessment and follow-up

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CARRIER TESTING MAY HELP REDUCE THE TRANSMISSION OF DUCHENNE AND IMPROVE OUTCOMES FOR WOMEN AT RISK1,8–10

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

  • Be offered genetic counselling, which can inform them about the risks of transmitting the mutated allele in future pregnancies8
  • Have the option of prenatal genetic testing8
  • Be made aware of alternative reproductive options, such as the use of donor eggs or human assisted reproduction with preimplantation genetic screening (PGD)8
  • Undergo regular surveillance for cardiomyopathy from early adulthood11
  • Receive early cardiac treatment if heart involvement is
    detected9,10

Find out who is eligible for Duchenne carrier genetic testing

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GENETIC COUNSELLING OFFERS MANY BENEFITS FOR FAMILIES LIVING WITH DUCHENNE

5 reasons to refer Duchenne families to a genetic counsellor:12–14

Education

They provide education about Duchenne and its therapeutic options

Coordination of genetic testing

They can coordinate diagnostic genetic testing

Establish risk

They can establish who is at risk of being a carrier and organise carrier genetic testing

Family planning options

They can discuss family planning options

Emotional counselling

They provide emotional counselling

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