In May 2022, the European Neuromuscular Center (ENMC) brought together about 20 experts and patient representatives from all over the world to review the pathophysiology, prevalence and management of women with partial or complete dystrophin deficiency. Their conclusions and recommendations include:
- the need to abandon the term “transmitters” or “carriers” of Duchenne muscular dystrophy in favour of that of female persons with dystrophinopathy in order to be able to distinguish between those who have symptoms and those who do not
- the very limited interest in studies of the inactivation of the X chromosome,
- the importance of regular cardiological follow-up,
- and the lack of relevant animal models to better understand the disease and predict its consequences.
