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CENTRONUCLEAR AND MYOTUBULAR
MYOPATHY INFORMATION POINT

United Kingdom

Established March 2001

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* * * Exciting News: New Gene Identified to cause Centronuclear Myopathy - see below for more information. * * * Webshop News: Our webshop has now raised £154.22 - click the link below to go shopping and help raise funds. * * * Please sign our guestbook / guestmap - this helps us to gauge the incidence of MTM / CNM worldwide. * * * Stamp Collecting: Don't forget to save your used Christmas stamps and send them to the Muscular Dystrophy Campaign at the address below - stamps can be sold at auction and raise £6 - £8 per bag net * * * Do you have a story to share or an achievement or milestone to shout about? Please email them here for inclusion with our other personal experiences. * * *











Welcome

What's New?

About the Condition

Research Developments


Ask the Experts

Ask the Experts

Terminology

Equipment and Suppliers

Personal Experiences

Childrens Websites

In Memory


Ways to Help

Make a Donation


Participate in Research


Wear your jeans, donate £1 and help sick children

Interactive Elements

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Notice Board


'It's Good to Talk'


Acknowledgements

Links to Other Sites
(move mouse over pictures and click)


Samuels Boxes


Muscular Dystrophy Campaign


Joshua Frase Foundation


the NeuroMuscular Centre

more Links ......

Toni's Website


Since 17th August 2003

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Welcome

Hello and welcome to the Centronuclear and Myotubular Myopathy Information Point.

If you are visiting for the first time, then let me introduce myself - my name is Toni and my father and I were diagnosed with Autosomal Dominant Centronculear Myopathy (CNM) also known as Myotubular Myopathy (MTM) following muscle biopsy in 1998. Having encountered difficulty finding information about the condition on the internet I decided to set up my own website. I wanted to produce something productive and useful, that would ultimately help others in their search for information, bring sufferers together and create awareness of this rare condition. The initial site concept was created in a web page design evening class at college and is now run from my home, in between working full time and studying with the Open University.

What has developed since then is a combination of reference material, stories and links to other sites. I do not claim to be an expert, the information contained here has been obtained from a variety of sources and collated here for ease of reference. My hope, to create a one stop shop where people can visit to 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.

The condition is a family of rare, inherited diseases of which there are 3 forms,
x-linked, autosomal recessive and autosomal dominant. Classified as a congential myopathy it manifests itself as a defect in the cell structure of voluntary muscles, it 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, 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.

If your visit here is a short one, please make sure you visit the
Personal Experiences and Children’s Website and Frequently Asked Questions Pages
These stories show that even with a tough start, with special love and attention wonderful things can be achieved.

If you have a story to tell, a website, achievement or milestone to share or if you any suggestions for the site please email me – the address is at the bottom of this page.

Exciting News: New Gene Identified to Cause Centronuclear Myopathy

Scientists in Paris, in collaboration with researchers from the United States and other European countries, recently identified a second gene that can cause Centronuclear Myopathy (CNM). The new CNM gene, DNM2, is named after its protein product, Dynamin 2. Changes (alterations) in one region of the DNM2 gene cause a specific form of Centronuclear Myopathy with later onset of muscle weakness and Autosomal Dominant inheritance. Alterations in other sections of the DNM2 gene have previously been associated with another unrelated genetic condition known as Charcot Marie Tooth disease.

Every person inherits two copies of most genes, including DNM2. (We generally inherit one copy of each gene from each parent.) DNM2 alterations in patients with CNM are inherited in an autosomal dominant manner; only one copy of a non-working DNM2 gene is necessary to cause the condition. Therefore, a parent with a DNM2 alteration can pass CNM directly to her or his children. Some individuals with autosomal dominant CNM have new (de novo) alterations in the DNM2 gene, which were not found in either parent. This finding suggests that not all individuals with CNM caused by DNM2 alterations will have a family history of the condition.

The discovery of the role of DNM2 in CNM will allow for the improved diagnosis of individuals with Autosomal Dominant CNM, as well as allowing for prenatal diagnosis. In addition, the understanding of DNM2’s role in muscle permits an increased understanding of muscle function, bringing us closer to developing treatments and cures for all congenital myopathies. The discovery was announced in Nature Genetics in November 2005.

The MTM1 gene, which was the first gene to be discovered was originally described in 1996. Some of this information has now been disproven but the description of the gene itself is still relevant.
A new review article entitled
X-Linked Myotubular and Centronuclear Myopathies

was published in July 2005 and provides information about the current status
of knowledge on MTM and CNM.

Our Webshop

Purchases made through the Information Point webshop have now enabled us to donate £120.79 to the the Beggs Laboratory at the Boston Children’s Hospital for research into Centronuclear and Myotubular Myopathy; the Beggs Laboratory studies all the congenital myopathies but has a particular focus on CNM/MTM. So far in the run up to Christmas we have raised a further £27.21. Can you help us increase our total? The shop has many good retailers including Marks and Spencer, Amazon, Play.com and CD WOW - many of these have special offers and some offer free delivery both in the UK and abroad - your purchases really do help research into CNM / MTM and all money raised goes directly to the Beggs Laboratory.

Thank you to everyone who has made these donations possible; please continue to remember the shop throughout the year – it is no more effort than normal online purchasing, yet valuable money is raised through your purchases. Information received from the Joshua Frase Foundation states that the cost of research is about $500 per fifteen minutes, that is around £268.00 at current exchange rates, so every little really does help.

From now until 31st January the shop will once more be taking part in a Bonus Builder Incentive which means your purchases are worth even more. If during this period we raise £100 + commission we will earn an extra 10%, for £200 + commission we will earn an extra 15% and for £400 + commission an extra 25%. As well as great online value you can shop from the comfort of your own home, beat the traffic, parking and queues, have your purchases delivered direct to your door - often with free delivery both in the UK and worldwide and compare prices using our product search.

Together with our buy.at shop, purchases can also be made through i.give and SchoolPop and all funds raised through these websites will go directly to the Joshua Frase Foundation.

Making a Donation

The Beggs Laboratory studies all the congenital myopathies but has a particular focus on CNM / MTM; the research done by the Beggs Laboratory has no international borders, so patients anywhere in the world benefit equally - the cost of research is about $500 per fifteen minutes so donations are extremely important if a cure is to be found.

Donations can be made as follows:

By Mail:

Children's Hospital Trust, Attention: Donna Richardson, 1 Autumn Street, #731 Boston, MA 02215-5301

or

By credit card via the web:

The giving page now features a drop down menu enabling donations to be made directly to the Beggs Laboratory and donations for research into Centronuclear and Myotubular Myopathy can be specified in the comments box.
If you choose to donate in this way please remember to state that you are donating through the Information Point website. Should the website and shop be able to raise $25,000 it will be possible for us to create a named fund.

Stamp Collection

Please remember to remove the postage stamps from your used envelopes, as these can make money for the Muscular Dystrophy Campaign. Send your used stamps to Peter Lawson at Muscular Dystrophy Campaign, 7-11 Prescott Place, London SW4 6BS.

Finally, as always I would like to thank everyone who continues to support both the website and the webshop and to contribute ideas, especially Wendy, Zak and Sophie, Anne, my dad and Alan Beggs and Elizabeth Taylor at the Beggs Laboratory for their time and generosity in helping me keep the website current.

Thank you so much for making this site a success – BIG hugs to you all!


toni.abram1@btopenworld.com

Toni, January 2006

These World Wide Web pages are published solely as a service for interested parties. This is a lay interpretation and should not be considered definitive by any means. I do not claim to be either a doctor or an expert nor do I pretend to be. Any decisions on medical treatments, interventions, courses of action, etc. should be made by the appropriate family members in consultation with the available literature and qualified medical professionals. Good sense should always prevail. I assume no responsibility for the use of the information,observations or opinions presented herein.

Links on this site have been included as areas of possible interest. I cannot vouch for the accuracy or suitability of information you may find on them, or on sites linked to them. Information may concern prognoses and must be treated with sensitivity. Be VERY wary of any site that offers treatment or cures and always ask for independent, professional medical advice before you contact a site of this type. If you are not medically qualified and find an item that worries you please discuss it with your doctor.

James Hopkins Trust

Winstons Wish

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Copyright © 2003 - The Centronuclear and Myotubular Myopathy Information Point - United Kingdom