The centronuclear myopathies are 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 both children and adults at various stages of life. 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.
Centronuclear and myotubular myopathy are neurological conditions not cognitive conditions. Many affected children are trached, meaning that a tube is inserted into the individuals neck to help them breath and this may result in them being behind with their language skills but a speaking valve can help with this. Sadly, people are mistakenly led to believe that they have learning difficulties - but the brain is not a muscle and it is more usual that these children are exceptionally bright and intelligent for their years. Children can be taught sign language which helps them communicate until they are able to talk and a speech therapist can teach exercises that help strengthen the muscles in face and throat. Other forms of the condition present later in life and are considered to be milder, however, all forms of the condition can be managed.
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
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