Understanding
Duchenne
Duchenne muscular dystrophy is progressive, genetic disease, diagnosed in childhood. It is the most common and severe form of muscular dystrophy. It is a complex, multisystem condition that causes all the muscles in the body to gradually weaken.
What is Duchenne?
Duchenne is a progressive condition diagnosed in childhood.
It is the most common and severe form of muscular dystrophy.
Stages
Duchenne is a progressive condition. Its progression is different for everyone.
There are five distinct stages, with variation in when symptoms begin and the speed of progression.
Treatments for Duchenne
There is currently no cure for Duchenne, but progress is being made and there is hope.
We are at the forefront of advancing new treatments and improving care for everyone affected by the disease.
FAQs
Duchenne is a genetic disease. Children can either inherit Duchenne from their mother if they carry the genetic mutation in the dystrophin gene, or it can be the result of a random genetic mutation.
Duchenne occurs when there is a fault in the dystrophin gene. This is the gene that the body needs to produce a protein called dystrophin, which is essential for maintaining muscle strength and function.
There are three errors, called mutations, that can prevent any or enough dystrophin being made by the body:
- Exon deletion – this means that one or more exons in the dystrophin gene is missing. This is the cause of around 70% of cases.
- Exon duplication – around 10% of cases are caused by one or more exons having extra copies in the dystrophin gene.
- Other small changes, such as tiny deletions of genetic code. These cause around 20% of cases.
Duchenne mainly affects males. It is very rare in females, but it can happen. Women and girls can also be carriers of Duchenne. Some female carriers of the disease (approximately 2.5-7.8%) are ‘manifesting carriers’, meaning they show some milder symptoms of the disease. This is not the same as having Duchenne, but these girls and women will produce reduced amounts of dystrophin. Manifesting symptoms can include fatigue, mild muscle weakness, cramping, and they will have an increased risk of heart problems.