Résumé :
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Myotonic dystrophy (DM) is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. Such variability together with multisystemic involvement creates particular challenges for both clinical management and design of therapeutic trial. Therefore, a database specifically dedicated to myotonic dystrophies summarizing the relevant informations from a large population of patients would be a valuable tool for promoting clinical research. The DM-scope registry collects in a standardized form, during the routine medical activity of neuromuscular centres, most relevant clinical and epidemiological data. of DM patients. The data management and the software are designed to both optimize the annual clinical evaluation and to enhance DM clinical research. Specific tools such as symptoms' severity graphs and synopsis editing can assist clinicians in improving medical management of DM patients, while other requests can be used to screen specific patients eligible for clinical studies. Several facilities have been developed to control and increase the quality of the data and identify available biomaterial at the Genethon biobank. The DM-SCOPE system is currently in use in 24 French neuromuscular centers, reaching 750 recorded DM patients, and already supports ongoing clinical research studies. The DM1 population displays a sex ratio of 1:1. We show that the CTG repeat length significantly differs among all the 5 categories of the common clinical classification. While the majority of patients have juvenile or adult forms, the French DM1 patients have respiratory dysfunction (54%), cataracts (47%), digestive symptoms (46%), hypersomnia (35%), and cardiac defects (33%). Endocrine disturbances include thyroid dysfunction 15,4%, diabetics (9,4%) and 25,8% have hypofertility. Further analysis will compare the DM1 genetically heterogeneous French population to the homogenous population of Quebec whom database shares identical items. They may identify prognostic factors (muscle weakness, cardiac and respiratory involvement, swallowing disturbances, intellectual impairment, genetic transmission, mutation), and will compare DM1 and DM2 features. Therefore, DM-SCOPE provides a powerful platform that can optimize routine clinical management and clinical research in the field of myotonic dystrophies.
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