Duchenne muscular dystrophy is often only associated with people assigned male at birth, as it is caused by a mutation on a gene located on X chromosomes and so in people with XY chromosomes there is no other functioning gene to compensate. Though it affects the lives of many more people who live with the condition.
People assigned female at birth are often only considered carriers of Duchenne muscular dystrophy, even though (while rare) they can also have Duchenne when the mutation is present on both their X chromosomes. In these cases, they are commonly identified as a ‘manifesting carrier’.
How does Duchenne differ between sexes?
It’s unclear how many females live with Duchenne, but it’s estimated that one is born with Duchenne for every 6000 males in the UK. However, with more people with Duchenne now living well into adulthood, the number of females with Duchenne is also increasing. With this comes further insight into how diversely their symptoms can present– with some having milder symptoms and others having the same severe symptoms as people with XY chromosomes.
The reason for this variation is still not yet clear, but some doctors think this happens when both parents have a medical history of Duchenne in their family. The most important thing to remember about people assigned female at birth who live with Duchenne is that the symptoms are very unpredictable as they don’t tend to follow expected patterns associated with the disease. This means, in practice, a more flexible approach is needed with specialists tailoring care to their unique needs. It is also harder to know how the disease will progress, and in what timeframes, often making it more difficult to prepare for what lies ahead.
Clinical trials and treatments
Currently, there is only one treatment available for Duchenne - called Translarna - through a managed access agreement. Females with Duchenne are eligible to access this treatment if they fall under the eligibility criteria. However, for other treatments currently in development, females find they are often unable to access clinical trials as the sample focuses exclusively on males.
We have heard from the community about how often females living with Duchenne are negatively impacted by widespread assumptions and how they feel they are overlooked. But, here at MDUK, we see you, we hear you, and we are here to support you every stage of your journey. We understand you may be overwhelmed and discouraged by the current system, which is why we are pushing for change.
We are committed to raising awareness of women with Duchenne amongst policymakers, NHS, and key healthcare to ensure faster diagnosis, better access to treatment, and improved support.
If you would like to get involved, please do not hesitate to let us know. You can contact us at: campaigns@musculardystrophyuk.org