Genes are made up of DNA, a code that tells the cells in our body how to make proteins. Proteins are the building blocks of our bodies, and they are needed to make and replace cells.
In DMD, there is a mutation in the gene that codes for dystrophin – an important protein that helps to keep muscles working properly.3 As a result, the body cannot make dystrophin.
Without dystrophin, muscle cells are easily damaged.2,4
Most cases of DMD are caused when large pieces of the dystrophin gene are lost or deleted (‘deletions’). Less often, large pieces of the dystrophin gene are copied or duplicated (‘duplications’). DMD can also be caused by smaller changes in the DNA code.4,5
Although most therapeutic strategies can be used regardless of the genetic mutation, in some cases treatment specifically for a particular mutation may be available.5
The mutation in the gene that codes for dystrophin can be either:6,7
Spontaneous mutations mean that sometimes DMD can occur without any family history of the disease. These new mutations can also be passed onto the next generation.6,7
The dystrophin gene is the largest known human gene, which means that it is at more risk of spontaneous mutations than smaller genes.1
These new mutations can arise in a mother’s egg cell in two ways:
When the baby grows up, they can pass the faulty dystrophin gene on to the next generation.6,7
Around two-thirds of DMD cases are caused by an inherited mutation.6 Learn how DMD is inherited
(excluding UK and Ireland)
Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis
Please ensure all questions are answered before submitting
When providing your feedback, no personal information will be collected, linked or shared with other parties, websites or social media platforms.
Thank you for submitting your response!
In addition to cookies that are necessary to operate this website, we use optional cookies to provide website functionality and give you the best possible experience. We won't set optional cookies unless you enable them. For more detailed information see our Cookie Statement , which explains among others, how to set your cookie preferences and how to recall your consent.