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Centronuclear and myotubular myopathy are rare inherited neuromuscular diseases of which there are three forms, x-linked, autosomal recessive and autosomal dominant. The conditions manifest themselves as defects in the cell structure of voluntary muscles, causing low muscle tone and affecting children and adults at various stages in life.

Centronuclear and myotubular myopathy are one of several different types of congenital myopathy. The word 'Myopathy' is derived from the Greek language - the word 'Myo' means muscle and the word 'Pathy' means disease. The term centronuclear myopathy is used to refer to the two autosomal forms of the condition, whilst the term myotubular myopathy is used to describe the x linked form of the condition. Collectively, the three forms are known as the centronuclear myopathies.

Established in 2001 the Information Point has three main aims:

  • to provide information about centronuclear and myotubular myopathy
  • to provide support by bringing people with the condition together, whatever their age, whatever form of the condition they have and wherever they may be in the world
  • to create awareness of this rare condition

The information contained here is a combination of reference material and stories obtained from a variety of sources, together with links to other websites, all collated here for ease of reference with the hope of creating an easily accessible location where people can find all the information they will need at their fingertips in the early days of diagnosis and beyond and also to provide help to those whose work may bring them into contact with affected individuals.

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