Duchenne muscular dystrophy (DMD) is a muscle wasting condition that causes progressive muscle weakness. It usually only affects boys and those assigned male at birth.
It’s caused by a lack of a protein called dystrophin. This causes muscle fibres to break down. They’re replaced by fibrous or fatty tissues that cause the muscle to gradually weaken.
DMD is a severe type of MD and often shortens life expectancy. Most people with DMD will reach adulthood. They are, however, more likely to die from heart or respiratory failure before or during their 30’s.
It’s unusual for symptoms to be present from birth. Often signs will appear between 1 and 2 years of age.
Someone with DMD might experience:
Your child might find it difficult to stand up from a seated position. Your child might use the Gowers’ manoeuvre to stand up by:
Speak to your GP if you or your child has symptoms of:
DMD is a type of sex linked (X-linked) muscular dystrophy.
Males have one X and one Y chromosome (long threadlike structures of DNA). Females have two X chromosomes.
A sex linked disorder is caused by a mutation in a gene on the X chromosome.
As males only have one copy of the gene on the X chromosome, they’ll be affected if one of those genes is mutated.
Because females have 2 copies of the X chromosome, they’re less likely to develop an X-linked condition. This is because the healthy copy of the chromosome can usually compensate for (mask) the mutated version. This means that although females can still be affected by X-linked disorders, the symptoms are likely to be less severe.
There are different methods used to diagnose muscular dystrophy.
Diagnosis might involve:
A blood test will normally be enough to confirm a diagnosis of DMD.
Read more about how muscular dystrophy will be diagnosed
Treatment is available to help with many of the symptoms of Duchenne muscular dystrophy.
If you have Duchenne MD, corticosteroid medicine (steroids) can help improve your muscle strength and function. This can slow down the progress of muscle weakness.
Steroids are available in tablet or liquid form.
Ataluren (Translarna) is used to treat some children with Duchenne MD that can still walk. It’s only effective for children with MD with a specific gene mutation.
Ataluren can help slow down the progress of muscle weakness. It’s prescribed as a sachet of granules which can be mixed into liquids or food like yoghurt and eaten.
A child with DMD could need a wheelchair by the time they’re 11 years old. At first, it might only be for long distances. Later it’s likely to be needed full time. At this stage, they might experience difficulties with other muscles like raising their arms above shoulder height.
Your child might benefit from splints or a spinal brace to help with their posture and mobility.
Duchenne MD can cause scoliosis. Surgery might be used to correct or to prevent scoliosis getting worse.
Many people with DMD develop dilated cardiomyopathy. This affects the heart muscles. The faulty gene also affects the heart muscles and causes the heart’s chambers to enlarge and the heart muscle to get thinner.
If you have Duchenne MD, you’ll have regular electrocardiograms (ECGs) to examine your heart rhythm. You’ll also need to have an echocardiogram. An MRI scan might be carried out to check for heart problems.
You’ll see a cardiologist (heart specialist) for further tests and monitoring.
The cardiologist will prescribe medication to help improve your heart function.
You might have a ICD (implantable cardioverter defibrillator) inserted to help with your heart function.
Last updated:
19 June 2024