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Duchenne muscular dystrophy
6-minute read
Key facts
- Duchenne muscular dystrophy (DMD) is a genetic condition that gradually weakens muscles, impacting movement and daily activities.
- DMD mainly affects male children and occasionally affects female children.
- DMD is caused by a mutation in a specific gene that helps produce the protein dystrophin, which is important for muscle strength, support and repair.
- Parents of children with DMD may notice delays in motor (physical) milestones, frequent falls, clumsiness and walking on their toes.
- DMD is usually diagnosed with blood tests, genetic tests and sometimes a muscle biopsy.
What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy, or DMD, is a genetic condition. It causes a gradual loss of muscle function that affects everyday movements and activities.
Muscular dystrophies are conditions that cause progressive (gradual) wasting (decrease in size and strength) of the muscles. DMD is the most common type of muscular dystrophy in children. It mainly affects male children and occasionally affects female children.
What is Becker muscular dystrophy?
Becker muscular dystrophy is similar to Duchenne muscular dystrophy. It has the same underlying genetic cause but is usually less severe and presents with slightly different symptoms.
Read more on Becker muscular dystrophy.
What are the symptoms of Duchenne muscular dystrophy?
The first thing parents usually notice is that their child isn't achieving expected motor (muscle movement) milestones. They might also notice that their child falls over often, is clumsy and walks on their toes.
Later, children with Duchenne muscular dystrophy might develop:
- muscle weakness that affects their posture, walking and running
- reduced joint movement, due to shortening of their muscles
- problems with their heart muscle, affecting heart function
- difficulty breathing as their muscle weakness worsens
What causes Duchenne muscular dystrophy?
Duchenne muscular dystrophy is a type of muscular dystrophy caused by a mutation in the DMD gene. The DMD gene helps produce a protein called dystrophin, which is important for muscle strength, support and repair. People with Duchenne muscular dystrophy don't produce the normal form of dystrophin. This means their muscles are more easily damaged and don't work properly.
The genetic mutation of the DMD gene is either inherited from parents or caused by a genetic change in the child.
How is Duchenne muscular dystrophy diagnosed?
Your doctor will ask about your child's symptoms and examine them. If the doctor suspects Duchenne muscular dystrophy, your child might have blood tests and genetic tests.
Blood tests look for elevated levels of the enzyme creatine kinase. This test can give a guide, but not a certain diagnosis. A genetic test for the DMD gene is the best way to diagnose DMD.
The genetic tests are sometimes unclear. If so, your child might need a muscle biopsy to check for dystrophin in the muscle.
Duchenne muscular dystrophy is usually diagnosed in children between 3 and 7 years of age.
When should I see my doctor?
You should see your doctor if you are concerned that your child is not meeting their expected motor milestones.
There are many potential causes of motor developmental delay. Your doctor can help you find the cause and guide any necessary treatment.
How is Duchenne muscular dystrophy treated?
There is no cure for Duchenne muscular dystrophy. Treatment aims to manage symptoms and improve quality of life.
A neurologist usually oversees your child's treatment, working with a team of health professionals including:
Common treatments include:
- stretching and exercising muscles
- wearing splints
- orthotics for support
Counselling can also help provide support for you and your child.
Your child's doctor may also prescribe steroid medicines to try and slow the progression of Duchenne muscular dystrophy, and these medicines may have side effects. Talk to your doctor if side effects become a problem, as there are ways to reduce their impact.
Complications of Duchenne muscular dystrophy
As DMD progresses, various parts of the body can be affected. As the chest muscles weaken, lung function gradually deteriorates. Your child will need to be followed up closely by a respiratory (lung) doctor and a physiotherapist. Your child may need a non-invasive ventilation machine to help them breathe overnight.
DMD can also affect the heart causing abnormal heart rhythms and problems with the pumping action of the heart. Your child should be followed up closely by a cardiologist (a heart doctor) who will check your child's heart function regularly. They might prescribe medicine for the heart.
Some children with DMD also have learning or behavioural difficulties.
How can Duchenne muscular dystrophy be prevented?
DMD cannot be prevented. However, genetic testing may be available if you are planning a family, or you care for someone who has a genetic disorder. Speak with your doctor.
Resources and support
These organisations provide information and support for people with Duchenne muscular dystrophy, as well as their families and carers:
Visit the healthdirect genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.
Call healthdirect on 1800 022 222 at any time to speak to a registered nurse (known as NURSE-ON-CALL in Victoria) for more information and advice.