Congenital myopathies

This is a group of inherited muscle conditions that are present from birth.

Congenital myopathies include:

  • central core disease
  • congenital myopathy with fibre-type disproportion
  • multi (mini) core disease
  • myotubular (centronuclear) myopathy
  • nemaline myopathy.

Congenital myopathies are conditions where changes in the muscle cells make them less able to contract. All these forms of congenital muscular dystrophy lead to muscle weakness and a decrease of muscle tone in early childhood. Later in life they are sometimes associated with delayed motor development and speech and learning difficulties.

About 1,000 people in the UK have a form of congenital myopathy.


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