HOW IS DUCHENNE DIAGNOSED?

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Identifying signs and symptoms of Duchenne Identifying signs and symptoms of Duchenne
Identifying the right specialist for Duchenne Identifying the right specialist for Duchenne
Can a blood test help diagnose Duchenne Can a blood test help diagnose Duchenne
Genetics and Duchenne Genetics and Duchenne
Getting the right diagnosis Getting the right diagnosis
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Help your doctor reach a diagnosis
The first symptoms of Duchenne may be hard for your doctor to recognise. Find out how you can help your doctor identify any problems as quickly as possible
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EARLY DIAGNOSIS MAKES A DIFFERENCE

There is never a good time to find out that your child or loved one has Duchenne. However, an early diagnosis gives your family the best possible opportunity to access care and support so you can:

  • Be referred to specialist teams near you
  • Start treatment as soon as possible
  • Get access to genetic counselling
  • Enable testing of family members at risk
  • Find out whether you are eligible for financial assistance
  • Plan ahead and make changes to employment and housing
  • Make decisions about potential future pregnancies
  • Learn about clinical trials to access potential new drug treatments
  • Get support from local patient organisations and other patients
Why timely treatment is so important
There is no cure for Duchenne, but scientific studies have shown that starting therapeutic strategies as soon as possible may help delay or slow disease progression and improve quality of life.
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UNDERSTANDING GENETICS

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  • Duchenne is a genetic disease
  • Duchenne can be caused by different types of mutation
  • Duchenne mutations can occur without any family history
  • Duchenne may be passed onto future generations
  • Girls may show Duchenne symptoms
  • Duchenne may affect future pregnancies
  • Prenatal diagnosis can identify Duchenne in an unborn baby
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WHAT DOES A GENETIC COUNSELLOR DO?

Learn how a genetic counsellor can help your family.

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  • What is a genetic counsellor?
  • Talking to family members about genetic test result
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Get support
Find out how a genetic counsellor can help support you and your family. Ask your doctor for a referral or more information.
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