Women who live with Duchenne muscular dystrophy or are manifesting carriers can have symptoms that vary from very mild to more severe. Others still will be asymptomatic, but can still pass the condition on if they have children.
Earlier this year, a workshop organised by the European Neuromuscular Centre (ENMC) took place in the Netherlands to agree on recommendations for the diagnosis, management, and prevention of Duchenne muscular dystrophy in females.
During the workshop, 19 experts combined their knowledge and expertise to discuss improving standards of care, diagnosis, and access to support services and therapies for girls and women with the changed dystrophin gene.
The points of discussion included replacing the current terms that are used to describe girls and women carrying the changed dystrophin gene. This is because some girls and women who carry the genetic change may not show any symptoms (currently known as clinically asymptomatic) whereas others might have symptoms of Duchenne (known as manifesting carriers). Finally, it was agreed that it is essential to raise awareness among healthcare workers and educational psychologists about the needs and care of girls and women with Duchenne.
The meeting concluded with a list of recommendations that will help raise awareness of Duchenne in girls and women, as well as pave the way for a better approach to the management of the condition in this population.
The recommendations include:
- The term ‘manifesting carrier’ should be changed to reflect the clinical condition of girls and women.
- Full genetic testing should be made available for all girls and women who are at risk of being a carrier of the changed dystrophin gene.
- All female carriers should be referred to a neuromuscular and cardiology specialist.
- Continue raising awareness of Duchenne in girls and women.
- Develop and include patient registries and natural history studies as part of clinical trial measures, thereby improving care and treatment standards for girls and women with Duchenne.
Kate Adcock, MDUK’s Director of Research & Innovation, said: “It’s fantastic to see women and girls with Duchenne muscular dystrophy being increasingly recognised in the muscle-wasting community and in the wider scientific community. These new recommendations will go a long way towards helping women with Duchenne be quickly diagnosed and receive correct treatment as early as possible. We look forward to seeing more advancement in treatment and recognition of women with Duchenne over the coming months and years, as this is a crucial step to creating a world where no one is limited by muscle-wasting conditions.”
You can read more details about it here.