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A natural history study of people with congenital myotonic dystrophy

Dr Turner’s team will collect data from people with congenital myotonic dystrophy, with the aim of understanding which disease traits are clinically useful for assessment of the condition.
Principal Investigator
Dr Chris Turner
University College London
Official title
CARE CDM: CArdio-REspiratory function in adult patients with Congenital Myotonic Dystrophy
12 months
Total cost
Myotonic dystrophy


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.

It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle-wasting conditions. Donate now and help change the lives of thousands of people living with these conditions. Thank you for your support.

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