Duchenne muscular dystrophyThe biggest genetic killer of children worldwide
Duchenne muscular dystrophy (DMD) is a progressive and fatal muscle-wasting disease that almost exclusively affects boys. It is caused by a lack of dystrophin, a protein that is needed to hold muscles together. Without dystrophin, all skeletal muscles begin to deteriorate, leading to paralysis, heart and lung failure, and early death – on average in the sufferer’s mid-twenties.
Duchenne is 100% fatal. There is currently no cure.
Lack of dystrophin is the result of an error in the dystrophin gene, which is found on the X chromosome. As boys only have a single X chromosome, this error causes them to have Duchenne muscular dystrophy. Girls can be carriers of the genetic error, and in 1% of cases they can be sufferers.
The genetic error can be inherited from a female carrier. However, in a third of cases it is caused by a completely spontaneous genetic mutation – and therefore can happen to anyone.
1 in 3,500boys born with
300,000sufferers known in
the developed world
100% FATALand there is
currently no cure
MID 20saverage life
The progression of Duchenne
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Age 3-5: diagnosis
Symptoms of Duchenne muscular dystrophy typically appear in the first few years of life. Infants may struggle to sit or stand up independently, and may start to walk at a later age. Children with Duchenne often have trouble keeping up with their peers. They have progressive muscle weakness of the legs and pelvic muscles. Their calves begin to enlarge, causing them to waddle when walking and making it difficult to climb stairs. Diagnosis is usually made by looking at raised creatine kinase enzymes in the blood. A muscle biopsy can also be done to look for abnormal levels of dystrophin, to confirm a diagnosis.
Age 13+: heart and lung problems
As the disease progresses, it causes severe muscle deterioration, reduced bone density and reduced cardiac and lung function. Muscle weakness and skeletal deformities often contribute to breathing disorders and scoliosis – and consequently, spinal surgery is common. Cardiomyopathy (an enlarged heart) occurs in almost all cases, from age 13 onwards, or sometimes earlier.
Age 6-9: muscle deterioration
As the muscles begin to waste, children struggle with stairs and erratically collapse. They are unable to keep up with their peers and can have associated learning difficulties. Steroids are usually given to improve strength and prolong the ability to walk. However, long-term steroid use has a range of debilitating side effects.
Age 19+: ventilator dependent
By the time individuals with Duchenne approach their twenties, they often become dependent on a ventilator or respirator. They may later need a tracheotomy – a surgical procedure where an artificial opening is made in the throat and a tube is inserted to help air flow to the lungs.
Age 9-13: wheelchair bound
As Duchenne sufferers approach their teens they are no longer able to walk, and become wheelchair bound. Steroids delay the onset of puberty and cause individuals to have a shorter stature. They can also cause cataracts, as well as Cushing syndrome – a complex hormonal condition whose symptoms can include facial puffiness, weight gain, high blood pressure, osteoporosis and diabetes. Long-term steroid use makes individuals more vulnerable to fractures and infection as it reduces bone density and immunity.
What are we doing to tackle Duchenne?
We aim to stop Duchenne muscular dystrophy being a death sentence for hundreds of thousands of boys worldwide.
We are helping turn the hope of treatments into reality. Critical supportive drugs are in clinical trial thanks to our funds.
In the last 3 years we have given more than £1.5m to ground-breaking research projects.
And there is still work to do.