Myotonic dystrophy type 1 is known to exhibit marked phenotypic disparities due to highly variable age of onset and heterogeneous multisystemic involvement. Despite recent clinical progress in DM1 adult forms characterization, pediatric descriptions still rely on limited groups of patients therefore not encompassing the whole clinical spectrum. We aimed to phenotypically characterize a large DM1 pediatric cohort to provide a solid frame of data for future evidence-based health management. The French DM-Scope registry (2697 genetically-confirmed patients) was used to set up the largest multicentric pediatric DM1 observational study.

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