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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in the diagram below to find out more.
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.
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:
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
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
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
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
Learn why genetics plays an important role in Duchenne.
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in the list below to find out more.
Learn how a genetic counsellor can help your family.
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in the list below to find out more.
Those observations can be made by:
Observations may include:
If the above signs and symptoms are observed, the first thing your GP will do will be to examine your child to check for muscle weakness. Your GP will also ask you about any delays you have noticed in your child’s early developmental milestones, such as sitting, walking and getting up from the floor.
High CK levels in the blood do not automatically mean that your child has Duchenne. To confirm or to rule out a diagnosis of Duchenne, further tests are required, including genetic tests.
If signs and symptoms of Duchenne are observed, your doctor may recommend a blood test. This involves taking a small sample of blood which will be sent to a lab for analysis to find out if there is a high level of a particular substance called creatine kinase (CK).
CK is an enzyme that is found in the heart, brain, skeletal muscle, and other tissues in the body. When muscle fibres are damaged, CK leaks out into the bloodstream. The muscle damage caused by Duchenne means that the level of CK in the blood can often be 10–100 times higher than normal.
If your child has a high CK level, your GP may refer him or her to a specialist children’s doctor (a paediatrician or a paediatric neurologist) or to a specialist centre.
Doctors will then work through a careful diagnostic process to identify the cause of the symptoms, and may recommend a variety of tests.
Genetic testing is used to confirm the majority of Duchenne diagnoses and can be done with a simple blood test.
Different genetic tests can also tell your doctor about the type of mutation that is causing Duchenne. There are different types of genetic tests and full gene sequencing may be needed to identify the specific type of mutation that is causing a child’s Duchenne. Knowing this is important because different mutations may be treated with different types of medication.
Another test that has been used to test for Duchenne is called a muscle biopsy. A muscle biopsy is not used to show the exact mutation that is causing Duchenne; instead, it is used to see if dystrophin can be found in the muscle that the biopsy was taken from. If genetic testing does not confirm a diagnosis of Duchenne, then a muscle biopsy may be performed.
If your child or relative DOES have Duchenne
Resources and treatment interventions are available to help manage symptoms and slow down the progression of the condition.
If your child or relative DOES NOT have Duchenne
Your doctor will do more investigations into what else could be causing symptoms.
Genetics is the branch of science that deals with how your physical and behavioural characteristics (including medical conditions) are determined by your DNA. Your genes are a set of instructions for the growth and development of every cell in your body – for example, the colour of your hair or eyes. Your genes can also directly cause a wide range of medical conditions such as Duchenne muscular dystrophy.
Duchenne is caused by a mutation (a defect or change) in the gene that makes dystrophin, a protein that keeps muscles working properly. As a result, the body cannot produce enough dystrophin, which makes muscle cells more sensitive to damage.
There are different types of mutations in the dystrophin gene that can change the functioning of the dystrophin protein and cause Duchenne. These are as shown below:
These specific mutation types are identified through genetic testing.
Why is it important to know the mutation type?
There are disease management strategies being developed that depend on the mutation type. Therefore, knowing the mutation type can affect which of these strategies may be appropriate for an individual child.
A genetic counsellor can help interpret the results of a genetic test to determine which disease management strategies may be appropriate for that person.
Nobody did anything wrong to cause Duchenne so there is no reason to blame yourself or others.
The mutation in the gene that codes for dystrophin can be either:
Spontaneous mutations (also known as ‘de novo’ 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.
De novo mutations can arise in two ways:
A MAN WITH DUCHENNE CAN NEVER PASS ON THE CONDITION TO HIS SON BUT HIS DAUGHTER COULD BE A CARRIER |
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 inherited in an X-linked pattern, meaning that a gene that may contain a mutation causing a condition is on the X chromosome. Every person has 23 pairs of chromosomes; each carries the genes that make us who we are. One of these pairs of chromosomes determines gender (male or female). A boy inherits an X chromosome from his mother and a Y chromosome from his father, while a girl gets two X chromosomes, one from each parent.
Adapted from the Muscular Dystrophy Association
If a mother has the mutation that causes Duchenne on one of her X chromosomes, she is called a carrier. That means there is a chance she can pass the genetic mutation on to her children. Because boys only have one X chromosome, if they receive the genetic mutation, they will have Duchenne. If a girl inherits the genetic mutation, however, she will be a carrier like her mother.
Girls are less likely than boys to be affected by Duchenne because their unaffected X chromosome helps protect against developing the condition. There is a small chance, however, that girls may experience symptoms of Duchenne and in a few cases the severity will be similar to that seen in affected boys.
*Carriers may show signs and symptoms of Duchenne and may need treatment
Adapted from the Muscular Dystrophy Association
Normally, a female ‘carrier’ doesn’t 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 girl is unable to produce enough dystrophin. This means that she will experience signs and symptoms, which can be treated in the same way as boys with Duchenne. Girls that show some symptoms of Duchenne are known as ‘manifesting carriers’.
In all carriers, regular strength checkups and close heart monitoring are important to make sure that any symptoms that may arise are properly treated. As a carrier ages, the risk of her developing heart issues increases. 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.
The chances of a carrier having a child with Duchenne are 1 in 4 (or 25%). This means that for every pregnancy, there is a 1 in 4 chance that the baby will have Duchenne. Once a Duchenne diagnosis has been made, it is important that you discuss your family planning options with your doctor and a genetic counsellor.
If you have a child or relative with Duchenne, you can ask your doctor about prenatal diagnosis during future pregnancies. There are different types of tests available and your GP or your genetic counsellor should be able to discuss these with you.
Other women in your close and extended family may also wish to find out if they are carriers. This will help them work out their chances of having a child with Duchenne.
Once you have the results, you can talk about what they mean for your family with a genetic counsellor.
Genetic counsellors are healthcare 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.
They provide education about Duchenne and the genetic testing process
They can advise which female relatives should be tested to determine whether they are carriers
They can explain the results of genetic tests and discuss the best course of action
They will provide support throughout the genetic testing process
In addition to providing support and education, genetic counsellors can give advice on how to talk to other family members about the results of genetic tests. Specifically, they can help you:
The first physical symptoms of Duchenne may be hard to recognise, so it can be difficult to diagnose.
If you think your child or relative might have Duchenne, take these 3 steps to help your doctor determine whether it’s Duchenne or another medical condition.
Understanding your family's history of muscle disease and other conditions can help your doctor reach a diagnosis.
Write down any symptoms you have noticed. Not sure what signs to look for? View the developmental milestones table here.
Bring photos or videos to help your doctor gain a better understanding of the signs and symptoms you have observed.
Monitoring your child's development can be confusing.
The table below has been designed to help you understand the early signs that could indicate a developmental delay.
Remember that every child develops differently, so slight developmental delays do not automatically mean something is wrong. However, if you have concerns about your child’s development, it is important to speak to your GP as soon as possible.
Other early signs and symptoms can include:
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