If your child is lagging behind, don't delay assessing him for Duchenne If your child is lagging behind, don't delay assessing him for Duchenne
Is it Duchenne Is it Duchenne

“I WANT TO KNOW EVERYTHING I CAN ABOUT DUCHENNE MUSCULAR DYSTROPHY”

If your child or a child you care for is showing signs and symptoms of Duchenne muscular dystrophy, or has already been diagnosed with the condition, we are here to help support you and your family.

The information contained on this site may be useful for you if you have noticed behaviours in your child that have made you think, for example, “my child struggles getting up from the floor or a chair”, “my child is clumsy”, or "my child has difficulty keeping up with other children their age".

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WHAT IS DUCHENNE MUSCULAR DYSTROPHY (DMD)?

Duchenne muscular dystrophy (also called DMD or just Duchenne) is a rare genetic condition, affecting around 1 in 3,600‒6,000 boys and around 1 in 50 million girls.

Click greyplus 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 the lack of a protein called dystrophin
  • Duchenne largely affects boys, but girls can also have symptoms
  • People with Duchenne are living longer
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WHAT ARE THE SIGNS AND SYMPTOMS OF DUCHENNE?

Although children with Duchenne appear healthy when they are born, reaching developmental milestones, such as sitting, walking, and talking, is often delayed compared with children who do not have Duchenne. Infants may also have difficulty lifting their head and may show a head lag when pulled up into a sitting position. Typically, between the ages of 2 and 5 years, children with Duchenne start to show more obvious signs and symptoms of the condition.

Signs and symptoms of Duchenne can include:

  • Difficulty keeping up with friends during play and physical activities
  • Learning and behaviour problems, including poor attention and memory skills
  • Delayed speech development
  • Large calf muscles (the muscles at the back of the lower leg)
  • An unusual 'waddle' when walking; this can include swaying while walking, walking with the feet far apart, and walking on the toes
  • Difficulty walking, running, jumping or climbing stairs
  • Slow movement
  • Frequent falling and tripping over nothing
  • Use of Gowers’ sign to get up from the floor or from a chair
gowers

Because their hip and thigh muscles are weak, children with Duchenne may use a technique called Gowers’ sign when getting up from the floor. This technique allows them to stand up by using their hands and arms to 'walk' up their lower limbs (shins, knees, and thighs) until they reach a standing position.

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’. However, in rarer situations, motor or developmental delay could be the first sign of a neuromuscular condition such as Duchenne.

One of the most important things you can do as a parent or caregiver is to become aware of what skills are expected at what ages, and what your child is accomplishing.

Below is a developmental milestones table, which provides a list of typical milestones your child should be reaching from birth through to 3 years old. If you have concerns about your child’s development, it is important to raise these with your GP, who will be able to perform an evaluation.

Take me to the developmental milestones table
Take action
Don't wait
If you notice any of the above signs or symptoms in your child, it is important to speak to your GP right away. He or she can help your child receive a correct diagnosis.
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WHY IS IT IMPORTANT TO RECEIVE A DIAGNOSIS OF DUCHENNE AS SOON AS POSSIBLE?

Getting a confirmed diagnosis as soon as possible is important because:

  • The earlier that management strategies are started, the better the chance of preserving muscle strength and function for as long as possible
  • Results from genetic testing can help identify the specific mutation that caused Duchenne. This then means that there may be the opportunity to manage the condition with a specific treatment approach
  • Genetic test results can also inform you about the risk of Duchenne in any future pregnancies. This allows parents to make informed family-planning decisions
  • You can start planning how to take care of your child at home, make changes to employment and find out what financial and practical support is available for your family
  • You can get support from local patient organisations and talk with other affected families
Take action
Don't wait
If you suspect your child has Duchenne, talk to your GP as soon as possible. The earlier your child receives a diagnosis, the sooner your family can create a clear disease management strategy.

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 muscles in 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 everyday physical functioning such as:

muscles

You may notice subtle behaviours in your child that are manifestations of the muscle weakness caused by Duchenne. You may notice that your child is delayed in walking or they find walking or running difficult.

Duchenne is caused by the
lack of a protein called dystrophin

image of a protein

Duchenne is caused by a mutation (a defect or change) in the gene that makes dystrophin, a protein that keeps muscles working properly.

Dystrophin acts as a shock absorber or stabiliser for muscles. It helps strengthen muscle fibres and protect them from damage as muscles contract (tighten) and relax.

If the body is unable to produce enough dystrophin, muscle cells become more sensitive to damage. The injured muscle cells gradually become replaced with scar tissue and fat.

The weakening of the muscles gets worse over time and leads to difficulty in everyday physical functioning, such as standing up, walking, and in later stages, breathing. As these functions become more difficult, it becomes harder for the person to perform daily activities, which can lead to a loss of independence.

Duchenne largely affects boys, but girls can also have symptoms

image of 1 in 6000

Only around 1 out of every 3,600‒6,000 boys and 1 in 50 million girls are born with Duchenne.

While the chances of having a girl with Duchenne are extremely low, it does happen. Girls affected by Duchenne normally have less severe symptoms than boys, but this is not always the case and they may need the same treatment and care.

Approximately two-thirds of mothers of affected boys are thought to be ‘carriers’ of Duchenne. Normally, a female carrier doesn’t show symptoms of Duchenne; however around 8% of female carriers experience some amount of muscle weakness.

People with Duchenne are living longer

Duchenne is progressive – this means that it gets worse as the person gets older. There is currently no cure for Duchenne; however, with recent improvements in multidisciplinary care, the survival of people with Duchenne has improved.

This improved survival means that research and medical support has expanded to include a focus on early identification and diagnosis, and on potential emerging treatments. Many people with Duchenne are now living into their 30s and beyond, resulting in an increasing focus on quality of life and mental health.

Developmental milestones table

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.

By 3 months

  • No head control

By 6 months

  • Not rolling over
  • No reaching or grasping

By 9 months

  • Unable to sit independently

By 15 months

  • Not cruising (moving upright holding onto supports)

By 18 months (1.5 years)

  • Not walking independently
  • Not using single words

By 24 months (2 years)

  • Not speaking in short sentences

By 36 months (3 years)

  • Unable to run by 30 months (2.5 years)
  • Unable to jump by 36 months (3 years)

Older than 36 months (3 years)

  • Struggling with steps/stairs or going uphill
  • Walking on tip toes

Other early signs and symptoms can include:

  • Gowers’ sign (pushing on floor and ‘climbing’ on legs to achieve a standing position)
  • Waddling gait
  • Enlarged calves
  • Inability to keep up with peers
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