Résumé :
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Myotonic dystrophy is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. This high variability of the multisystemic involvement creates particular challenges for both management and the design of optimal therapeutic trial. Therefore, a database specifically dedicated to myotonic dystrophies may be a valuable tool for promoting clinical research and optimizing the management of the patients. This database will contain clinical and paramedical data collected during the medical consultations of DM patients in several French neuromuscular centres and sent to the Henri Mondor hospital for recording. Basic informations will be first reported in an inclusion document (identification, expansion size of the mutation, clinical history, clinical evaluation of neuromuscular and systemic signs, and professional and social consequences of the disease) and next completed by an annual follow-up section reporting the recent clinical events and an actualised clinical evaluation. The database may then allow us: 1) to identify prognostic factors (muscle weakness, cardiac and respiratory involvement, swallowing disturbances, intellectual impairment) and to study their potential interrelations; 2) to compare the main features of both diseases in patients from two different countries. In particular, the study will compare the DM1 genetically homogenous population of Quebec to the genetically heterogeneous French patients 3) to study mortality and morbidity; 4) to search for genotype/phenotype correlations; and 5) to compare DM1 and DM2 features. Furthermore, recent research has provided more information on the underlying molecular pathomechanisms involved in myotonic dystrophies that creates new opportunities for more specific therapy. The database will be of great interest to select patients for future therapeutic trials.
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