Do not wait.
If you suspect a developmental delay, ask your family doctor for an evaluation. Do not wait. Please refer to the doctor’s appointment conversation checklist for reference.
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29th February is Rare Disease Day, a day when this community comes together to raise awareness of rare diseases and the lives of those affected by them.
It provides the opportunity to advocate for rare diseases and help achieve access to diagnosis, treatment, social care and opportunities for those affected by a rare disease.
Browse the life hacks for practical tips, tricks and creative ways to make everyday life with Duchenne simpler and more enjoyable!
WELCOME TO DUCHENNE AND YOU
Duchenne and You is a resource dedicated to those who have had their lives touched by Duchenne muscular dystrophy.
Whether your child or loved one has been diagnosed with Duchenne, or you are worried that they might be showing symptoms, you have come to the right place
As a source of knowledge, hope and ongoing support, we will help you find out what to expect and what to do next.
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WHAT IS DUCHENNE MUSCULAR DYSTROPHY (DMD)?
Duchenne is a rare condition, affecting around 1 in 3,600‒6,000 boys.
Click 
in the list below to find out more.
- Duchenne is a type of muscular dystrophy
- Duchenne affects muscles in the body
- Duchenne is caused by a lack of dystrophin
- Duchenne largely affects boys, but girls can also have symptoms
- People with Duchenne are living for longer than ever before
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WHAT ARE THE SIGNS AND SYMPTOMS OF DUCHENNE?
The first noticeable signs of Duchenne are that a child does not reach developmental milestones when expected. These milestones include lifting their head, sitting, walking, and talking.
Children with Duchenne may also have learning and behaviour problems, including poor attention and memory skills.
Most of the time, a delay in development is nothing to worry about. Every child develops differently, and there is a wide range of what is considered to be ‘normal’.
One of the most important things you can do as a parent or caregiver is become aware of what skills are expected at what ages, and what your child or loved one is accomplishing.
To help you keep track of this, we have created a developmental milestone checklist. This has been designed to help you identify warning signs for developmental delays in children from birth to 3 years old.
Developmental milestone checklist
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WHAT TO DO IF YOU ARE CONCERNED
Remember that every child develops differently, so slight developmental delays do not automatically mean something is wrong.
However, if you suspect that your child or loved one has a developmental delay, it is important to speak to your family doctor as soon as possible.
You should also tell your family doctor if you think your child or loved one:
- Is falling behind other children their age
- Walks strangely
- Gets tired or exhausted easily
Take
action
action
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WHY IS EARLY DIAGNOSIS IMPORTANT?
If your child or loved one has Duchenne, it is better to find out sooner rather than later.
The earlier the diagnosis, the sooner your child or loved one can start to receive medical care and treatment. And the sooner this starts, the more potential there is for slowing down the disease, and helping to preserve muscle function for as long as possible.
There are other benefits to finding out as early as possible:
- You will have access to specialist clinics and doctors
- Your child or loved one may be able to start treatment
- You can find out the risk of Duchenne in any future pregnancies
- You may be able to apply for financial assistance
- You can start planning how to take care of your child or loved one at home
- You may be able to enroll your child or loved one in clinical trials of new treatments
- You can get support from local patient organisations and talk with other affected families to see that you are not alone
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Duchenne is a type of muscular dystrophy
Muscular dystrophy refers to a group of genetic diseases that cause muscle weakness.
Duchenne (also called Duchenne muscular dystrophy, or DMD) is the most common and severe form of muscular dystrophy.
Duchenne affects muscles in the body
Duchenne affects all muscles of the body – including muscles in the arms and legs, as well as the heart muscle and those involved in breathing.
Over time, this can lead to problems with:
Duchenne is caused by
a lack of dystrophin
Genes are made up of DNA, a code that tells the cells in our body how to make proteins. In Duchenne, a gene change (mutation) prevents the body from producing enough dystrophin.
Learn more
If the body does not have enough dystrophin, muscle cells become more sensitive to damage. Over time, the injured muscle cells become replaced with scar tissue and fat.
When this happens, the muscles lose their strength. Over time, the person starts to have problems with movements such as getting up from the floor and walking.
Learn more
Duchenne largely affects boys, but girls can also have symptoms
Only around 1 out of every 3,600‒6,000 boys are born with Duchenne
While the chances of having a girl with Duchenne are extremely low – approximately 1 in 50 million – it can happen.
Girls affected by Duchenne normally have less severe symptoms than boys, but they may need the same treatment and care.
People with Duchenne are living for longer than ever before
There is no cure for Duchenne at the present time, but, with the right care, people with Duchenne may live into their 30s and beyond.
Developmental milestone checklist
The checklist below has been designed to help you understand:
- What your child or loved one should be able to do according to his or her age
- The warning signs that could indicate a developmental delay
Infant
- Cannot hold head up when on tummy at 2 months
- Not rolling over by 4 months
- Not reaching for objects by 6 months
- Not making sounds
6–9 months
- Cannot sit without support at 6–9 months
- Not crawling by 9 months
- Not taking weight on legs while supported
- Cannot pick up small objects
- Not making vowel sounds at 6 months (‘ah’, ‘eh’, ‘oh’), does not babble at 9 months
12–18 months
- Not walking by 16–18 months
- Does not perform play activities such as building with blocks
- Difficulty in gripping, for example, not holding or scribbling with crayons
- Not speaking first word by 12 months
- Does not have at least 6 words by 18 months
2–3 years
- Cannot run, or runs with difficulty
- Cannot climb stairs (alternate feet)
- Cannot climb on and off furniture
- Not jumping
- Difficulty making or copying a straight line or circle
- Not speaking in sentences by 3 years
- Gowers’ sign (pushing on floor and ‘climbing’ on legs to achieve a standing position), toe walking, waddling gait, enlarged calves, frequent falls, weak or floppy muscles
Created from references [Birnkrant 2018, Noritz 2013, Lurio 2015, CDC developmental milestones, Ciafaloni 2009]
The information provided here is not a substitute for professional medical advice. Please contact your doctor for more information.
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