On 13-15 May 2022, a European Neuromuscular Centre (ENMC) workshop was organized on females with dystrophinopathies. The lay summary on carriers of dystrophinopathy is available in several languages. The scientific report us currently being prepared.
The focus of this ENMC Workshop #263 was on female carriers of dystrophinopathy. Its goal was to refine recommendations for prevention, diagnosis, surveillance and treatment. The lay summary is now available in English, Portuguese, Italian, Dutch, French, Danish and Spanish. The World Duchenne Organization is grateful to be an Associated Partner of the ENMC and have Elizabeth Vroom participating in the workshop.
Focus on female carriers of dystrophinopathy
Dystrophinopathy (DMD) female carriers are a complex clinical and still neglected patient group. Management and research for DMD female carriers still is considered a “low priority”. There is poor definition of “female carrier status” and “manifesting carrier”, of clinical outcome measures, assessment and management of non-muscle symptoms and use of various novel therapies.
The aims of the workshop were to:
- raise priority and need for much greater clinical and research focus on DMD female carriers,
- highlight unmet needs,
- propose a clinically useful classification of carrier status, and
- demonstrate how available preventative and therapeutic approaches can improve patient outcomes.
Translations of the lay report:
About the ENMC
The European Neuromuscular Centre (ENMC) was founded in 1992 by a group of European patient associations that dedicated itself to bring leading researchers and clinicians from all over the world together. To achieve this goal, ENMC applies a concept unique in the scientific world. It consists of organizing and financing workshops on application basis. Topics of the workshops vary from outcome measures, clinical trial readiness and preclinical studies, to diagnosis and care for all neuromuscular diseases.