An ENMC workshop on dystrophinopathies in women

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 chromosomeForme que prend l’ADN pendant la division cellulaire (aspect de fins bâtonnets). Il est composé de 2 bras, un bras long et un bras court. Par convention, le bras long s’appelle q, et le bras court s’appelle p. Chez l’être humain, il y a 23 paires de chromosomes (soit 46 chromosomes). Vingt-deux paires sont constituées de 2 chromosomes identiques, appelés autosomes. La vingt-troisième paire est constituée des chromosomes sexuels, XX chez la femme et XY chez l’homme.,
• the importance of regular cardiological follow-up,
• and the lack of relevant animal models to better understand the disease and predict its consequences.

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. Sarkozy A, Quinlivan R, Bourke JP, Ferlini A; ENMC 263rd Workshop Study Group. Neuromuscul Disord. 2023 Mar;33(3):274-284.