About

The Information Point for Centronuclear and Myotubular Myopathy was established in 2001 to raise awareness of the rare neuromuscular conditions known as centronuclear and myotubular myopathy, a family of rare inherited neuromuscular diseases.

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 of life. 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.

To learn more about the conditions, please visit our main website.

The family of conditions vary on a scale from mild to very severe and those diagnosed with one of the conditions display many similarities but also many differences.  The stories which appear on these pages were originally contributed by members of the centronuclear and myotubular myopathy community for The Information Point newsletter Our World. They have now been gathered together and archived here, to show the diversity of those affected and the range of possible outcomes for someone with a diagnosis of centronuclear or myotubular myopathy.

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