The work of The Information Point has now come to an end. To learn more about the work of The Information Point between 2001 and 2020 visit the Our World website. For information about centronuclear and myotubular myopathy in the UK visit the Myotubular Trust website.
Centronuclear and myotubular myopathy (CNM and MTM) are rare inherited neuromuscular diseases of which there are three forms of inheritance:
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.
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 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. 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. Colletively, 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 these rare conditions.
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.