Help your doctor reach a diagnosis
The first symptoms of Duchenne may be hard for your doctor to recognize. Find out how you can help your doctor identify any problems as quickly as possible.
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HOW IS DUCHENNE DIAGNOSED?
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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 counseling
- Enable testing of family members at risk
- 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 organizations and other patients
Why early treatment is so important
There is no cure for Duchenne, but scientific studies have shown that starting treatment strategies as soon as possible may help delay or slow disease progression and improve quality of life.
UNDERSTANDING GENETICS
Learn why genetics plays an important role in Duchenne.
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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
WHAT DOES A GENETIC COUNSELOR DO?
Learn how a genetic counselor can help your family.
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- What is a genetic counselor?
- Talking to family members about genetic test result
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Get support
Find out how a genetic counselor can help support you and your family. Ask your doctor for a referral or more information.
Find out how a genetic counselor can help support you and your family. Ask your doctor for a referral or more information.
1. Identification of signs and symptoms
If Duchenne is suspected, the first thing your family doctor will do is perform a physical exam to check for muscle weakness.
They will also ask about delays in early developmental milestones, such as sitting, walking and standing up from the floor.
Learn more about Duchenne signs and symptoms2. Blood test
High CK levels in the blood do not automatically mean that your child or loved one has Duchenne. Genetic testing is the only way to confirm a Duchenne diagnosis.
If your child or loved one shows signs and symptoms of Duchenne, your doctor will usually recommend a special blood test called a CK test. This involves taking a small sample of blood which will be sent to a lab for analysis.
What is a CK test?
A CK test checks for an enzyme called creatine kinase, or CK. When muscle fibers are damaged, CK leaks out into the bloodstream. The muscle damage caused by Duchenne means that the level of CK in the blood will often be higher than normal.
Learn more about Duchenne signs and symptoms3. Referral to a specialist
If your doctor becomes concerned that your child or loved one needs further testing, they will usually refer them to a specialised center or neuromuscular specialist.
Specialists will then work through a careful diagnostic process to identify the cause of the symptoms and may recommend a variety of tests.
4. Genetic test
If your child or loved one has high CK levels, another sample of blood will be taken to test for changes in genes (called mutations) that cause Duchenne. These genetic tests may confirm or rule out Duchenne:
If your child or loved one DOES have Duchenne
Resources and therapies are available to help manage symptoms and possibly slow down the progression of the condition.
If your child or loved one DOES NOT have Duchenne
Your doctor will do more investigations into what else could be causing symptoms.
Different genetic tests can also tell your doctor about the type of mutation your child or loved one has. This is important because different mutations may be treated with different types of medication.
Duchenne is a genetic disease
Figure adapted from
Haas, et al. 2015
Duchenne is a genetic disorder, which means that it is caused by changes (mutations) in a certain gene.
Genes are made up of DNA, a code that tells the cells in our body how to make proteins. Proteins are the building blocks of our bodies, and they are needed to make and replace cell.
In Duchenne, there is a mutation in the gene that codes for dystrophin – an important protein that helps to keep muscles working properly. As a result, the body cannot make dystrophin.
Without dystrophin, muscle cells are easily damaged.
Learn moreDuchenne can be caused by different types of mutation
Most cases of Duchenne are caused when large pieces of the dystrophin gene are lost or deleted (’deletions’). Less often, large pieces of the dystrophin gene are copied or duplicated (‘duplications’). Duchenne can also be caused by smaller changes in the DNA code.
Figure adapted from Bladen 2015; Pichavant 2011; Kalman 2011
Although most treatment strategies can be used regardless of the genetic mutation, in some cases treatment specifically for a particular mutation may be available
Duchenne mutations can occur without any family history
The mutation in the gene that codes for dystrophin can be either:
- Passed down through the family (inherited), or
- Caused by a new genetic change – this is called a ‘spontaneous mutation’.
Spontaneous mutations mean that sometimes Duchenne can occur without any family history of the disease. These new mutations can also be passed onto the next generation.
Figure adapted from Ciafaloni 2009
Duchenne may be passed onto future generations
Duchenne is an X-linked disease, which means that the gene causing the disorder is located on the X chromosome
Adapted from the Muscular Dystrophy Association
How Duchenne is passed down through the family (inherited)
*Carriers may show signs and symptoms of Duchenne and may need treatment
Adapted from the Muscular Dystrophy Association
- Every boy inherits one of his mother’s X chromosomes and his father’s Y chromosome. If a boy’s X chromosome contains a faulty dystrophin gene, he will have Duchenne.
- Girls inherit two X chromosomes, one from each parent. If a girl’s X chromosome contains a faulty dystrophin gene, they have a ‘back-up’ copy of the dystrophin gene which usually compensates for the faulty one. A girl with the faulty dystrophin gene is called a ‘carrier’
How Duchenne is caused by a spontaneous mutation
- The dystrophin gene is the largest known human gene, and it is at risk of spontaneous mutations.
- These new mutations can arise in a mother’s egg cell in two ways:
The mutation occurs when the mother’s body makes the egg cell
If this particular egg cell is fertilized, the baby will carry a faulty dystrophin gene.
The mutation occurs at conception (when the mother becomes pregnant)
In this case, the baby will carry a faulty dystrophin gene.
- When the baby grows up, he or she can pass the faulty dystrophin gene onto the next generation.
A man with Duchenne can never pass on the condition to his son
This is because an affected father only passes a Y chromosome to his sons (the Duchenne-causing gene is located on the X chromosome). However, he will pass the Duchenne-causing gene onto his daughters, because each daughter inherits her father’s only X chromosome. These daughters will be carriers.
Duchenne is nobody's 'fault'
People have no choice in the genetic conditions that are passed on in a family. Nobody did anything wrong to cause Duchenne so there is no reason to blame yourself or others.
Girls may show Duchenne symptoms
Normally, a female carrier does not show symptoms of Duchenne. This is because her healthy dystrophin gene will usually be able to produce enough of the dystrophin protein.
However, sometimes a carrier is unable to produce enough dystrophin. This means that she will experience some signs and symptoms, which can be treated in the same way as boys with Duchenne.
In all carriers, regular strength checkups and close heart monitoring are important to make sure that any symptoms that may arise are properly treated. This is why it is so important for female relatives of a boy with Duchenne to get tested to find out whether or not they are carriers.
Find out about how treatment can helpDuchenne may affect future pregnancies
If a woman is a Duchenne carrier, she may have another baby with Duchenne.
The chances of a carrier having a child with Duchenne are 1 in 4 (or 25%). This means that for every baby she has, there is a 1 in 4 chance that the child will have Duchenne.
Prenatal diagnosis can identify Duchenne in an unborn baby
If you have a child or relative with Duchenne, it is possible to offer prenatal diagnoses in future pregnancies through genetic testing.
Other women in the family can also find out if they are carriers of the condition. This will help them work out their chances of having a baby with Duchenne.
Once you have the results, you can talk about what they mean for your family with a genetic counselor.
Find out more about what to expect for the future Learn about Duchenne treatment optionsWhat is a genetic counselor
Genetic counselors are professionals who can help guide you through genetic tests and explain how the results might affect you or your family. They also provide you with emotional support and the resources to help you cope long-term.
4 REASONS TO SEE A GENETIC COUNSELOR
They will answer any questions you have about Duchenne and what it means for your family
They will help determine the best testing strategy for your child or relative
They will help you make sense of the results and discuss the best course of action
They will help you and your family cope with a positive test result
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Talk to a genetic counselor
Unsure about how to find one? Ask your doctor for a referral.
Unsure about how to find one? Ask your doctor for a referral.
Talking to a family member about genetic testing
Deciding whether to talk to your family members about a genetic diagnosis is a very personal decision.
But you are not alone.
A genetic counselor can help you:
- Figure out which family members could be affected by Duchenne
- Understand the benefits and drawbacks of telling your family about Duchenne
- Decide when and how to tell your family about Duchenne
- Prepare what to say and decide what information you should share
- Anticipate and prepare for any questions they might ask
- Deal with any difficult emotions
How you can help your doctor reach a diagnosis
The first physical symptoms of Duchenne may be hard to recognize, so it can be difficult to diagnose.
If you think your child or loved one might have Duchenne, take these 3 steps to help your doctor determine whether it is Duchenne or another medical condition.
WRITE DOWN YOUR FAMILY HISTORY
Understanding your family's history of muscle disease and other conditions can help your doctor reach a diagnosis.
KEEP A JOURNAL OF YOUR CHILD OR LOVED ONE'S SYMPTOMS
Write down any symptoms you have noticed. Not sure what signs to look for? Download the developmental milestone checklist here.
TAKE PHOTOS OR VIDEOS
Bring photos or videos to help your doctor gain a better understanding of the signs and symptoms you have observed.
A discussion guide is available to support a conversation with your doctor