GNE myopathy (GNEM) remains a particularly rare neuromuscular disease (with an estimated 1 to 9 cases per 1 million), probably because it remains poorly understood and poorly diagnosed:
- in addition to the international patient register, researchers belonging to the international consortium dedicated to GNEM have used information contained in the literature and in public databases of genetic variants,
- these variants of the GNE gene may or may not be clearly pathogenic,
- algorithms have made it possible to reclassify some of them,
- all of which has resulted in much higher prevalence figures: between 19 and 95 cases per 1 million.
These figures represent only a prediction, but suggest that this myopathy is much more common than previously thought.
