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
Take
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Report any symptoms to your GP as soon as possible

It is important to report any symptoms to your GP as soon as possible to help minimise delays in diagnosis and ensure that your child’s condition is managed in the best possible way.

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WHAT ARE THE CHALLENGES ASSOCIATED WITH DIAGNOSING DUCHENNE?

Diagnosing Duchenne can be a challenge. Often, there is a delay of around 2 years between the appearance of the first symptoms and a confirmed diagnosis. On average, Duchenne is diagnosed when the child is around 4 or 5 years of age.

The delay in diagnosis may be because:

  • Early signs and symptoms of the condition may not be noticeable until a child is at least 2 years old
  • There may be no family history of Duchenne
  • A parent may not think to tell their GP about early signs and symptoms because they may not recognise them as early delayed development
  • Because it is so rare, it is possible that many doctors may not be familiar with the signs and symptoms of Duchenne, especially the early signs

It is important to report any symptoms to your GP as soon as possible to help minimise delays in diagnosis and ensure that your child’s condition is managed in the best possible way. You can help your doctor by following one or more of the steps below:

Write down your family history

family tree

Understanding your family's history of muscle disease and other conditions can help your doctor reach a diagnosis.

Keep a journal of your child's symptoms

journal

Write down any symptoms you have noticed. For example, you may notice that your child seems unsteady or is easily pushed over. For more information about Duchenne signs and symptoms, click here.

Take photos or videos

phone

Bring photos or videos to help your doctor gain a better understanding of the signs and symptoms you have observed. For more information about Duchenne signs and symptoms, click here

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UNDERSTANDING GENETICS

Learn why genetics plays an important role in Duchenne.

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  • Duchenne is a genetic condition
  • Duchenne can be caused by different types of mutations
  • Duchenne may be passed onto future generations
  • Duchenne mutations can occur without any family history
  • How Duchenne affects females
  • 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 results
Take
action
Get support
Find out how a genetic counsellor can help support you and your family. Speak to your specialist doctor for more information.
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