International GNE Myopathy Patient Registry (GNE001)

GNE myopathy is an ultra- rare condition. Most of the knowledge is coming from case reports or small cohort observations. There is a need to more precisely understand the long-term disease course and the progression of disease-specific features of GNE myopathy, and in turn characterise the overall burden of this illness. Also, to better understand the disease, describe it variability, genotype-phenotype correlation, quality of life, epidemiology, health-economics aspects and need for assistive walking devices. Collected data needs to be harmonised to be compatible collaborative work with Remudy (Japanese patient registry). This collaborative effort will enable the analysis of the largest GNE myopathy data set in the world. To this end, this study will collect patient information longitudinally. Upon patient's agreement, the registry curator can contact nominated clinicians to request additional data or data validation. Study Objectives The objectives of the study are to: * Longitudinally characterize disease-specific features of GNE myopathy * Characterize the burden of illness and quality of life in patients with GNE myopathy * Support recruitment in research activities * Inform registry participants via newsletters about scientific developments in the GNE myopathy field