The condition Centronuclear / Myotubular Myopathy is a family of rare inherited neuromuscular diseases of which there are 3 forms, X-Linked, Autosomal Recessive and Autosomal Dominant. Classified as a congential myopathy, the condition affects all ages. It manifests itself as a defect in the cell structure of voluntary muscles, causes low muscle tone and in most forms, is usually apparent at birth. Affected children have diminished respiratory capacity and are often partially or totally ventilator dependent - parents are frequently told they will not live past their first birthday but this is untrue.

First and foremost it should be understood, this is a neurological condition not a cognitive one. Many of the children with this condition 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.

Further information about the condition is available at the Resources section of this website, however, if your visit here is a short one, please read An Interview with Professor F Muntoni, Professor of Paediatric Neurology at Hammersmith Hospital, and our Personal Experiences and Frequently Asked Questions pages.

A history and basic summary of the condtion can be found at NCBI/OMIM and PubMed lists all research articles from peer-reviewed journals.

News stories about Centronuclear and Myotubular Myopathy can be found at Google News.

The Information Point likes to encourage active participation in the website and we are always pleased to hear from our visitors. Please sign our guestbook or guestmap, this helps us to gauge worldwide incidence figures and is important because of the rarity of the condition. It also means that others will be able to contact you to share experiences. If you would like for your story to appear on these pages or would like to include something in one of our newsletters, please get in touch.

Finally, I would like to thank everyone who has helped make the Information Point what it is today - please visit our acknowledgements page to read more about these people.