In 2001 I set up The Information Point for Centronuclear and Myotubular Myopathy. Initially it was to fulfill the project element of a web design class I was taking at college but once the pages were published, people began to contact me and I found myself running a website in my spare time. Distanced by often hundreds and thousands of miles it turned out there were other people out there with the same diagnosis as my dad and I, many who had also been told they were unlikely ever to find anyone else with the condition too and a global community began to grow.
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
It is, I hope, a place where people can find everything they need to know about centronuclear and myotubular myopathy, in one place in the early days of diagnosis and beyond, a stepping stone to a community of others diagnosed with centronuclear and myotubular myopathy and a place that provides help to those whose work may bring them into contact with affected individuals.
Centronuclear and myotubular myopathy are rare inherited neuromuscular diseases of which there are three forms:
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.
Manifesting as a defect in the cell structure of voluntary muscles and causing low muscle tone the conditions affect children and adults. The term myotubular myopathy is currently used to describe the x linked form of the condition while centronuclear myopathy is used to refer to the autosomal forms. Collectively, the three forms are known by the umbrella term of the ‘centronuclear myopathies’ as illustrated below. The conditions 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.
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.
The centronuclear myopathies belong to a group of conditions known as congenital myopathies which are inherited muscle disorders from birth. The characteristic feature of the centronuclear myopathies is the presence of the nucleus in the centre of the muscle fibre instead of the usual position at the edge. The conditions are so rare that there are no good estimates of their incidence, a guess-timate would be somewhere between 1/50,000 and 1/100,000 for each form and perhaps slightly greater when the forms are combined. To put this into perspective, Duchenne Muscular Dystrophy affects about 1 / 3500 male births or 1 in 7000 children born (Source: The Beggs Laboratory).
To learn more about centronuclear and myotubular myopathy and the work of The Information Point please see below.