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.
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