Background
Congenital myotonic dystrophy is a severe form of myotonic dystrophy type 1 that typically begins in infancy. Although people with this condition often die in childhood, significant numbers live to be adults. However, the phenotype in other words, the observable traits) of congenital myotonic dystrophy in adults is poorly characterised.
What are the aims of the project?
Dr Turner’s study aims to provide a wide range of natural history data on adults with congenital myotonic dystrophy, including their genetic diagnosis, functional assessments of their muscle strength, the function of their hearts and lungs, cognitive assessment, and quality-of-life data.
Why is this research important?
This study will help to improve clinical trials on congenital myotonic dystrophy, by defining clinical endpoints (used to assess the outcomes of clinical trials), and will improve the type and relevance of information that is collected about adults with congenital myotonic dystrophy.
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