Myotonic dystrophy

A group of inherited conditions that show muscle weakness and ‘myotonia’ – a certain muscle stiffness that makes it difficult for muscles to relax after contracting.

The group includes:

  • myotonic dystrophy type 1
  • myotonic dystrophy type 2.

The myotonia affect the hands and ankles in particular. Myotonic dystrophy also affects other organs and is associated with cataracts, disturbance of the heart rhythm and, in children, learning disability. The symptoms show enormous variability ranging from severe symptoms present at birth to the development of cataracts as the only symptom in middle age. The conditions are caused by ‘unstable mutations’ that tend to get worse when passed from generation to generation.

About 9,500 people in the UK have a form of myotonic disorder.


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