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CENTRONUCLEAR AND MYOTUBULAR MYOPATHY INFORMATION POINT
United Kingdom

Established March 2001

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* * * Webshop News: Thank you for your continued suport - our webshop has now raised £120.79. * * * Please sign our guestbook / guestmap - this helps us to gauge the incidence of MTM / CNM worldwide. * * * 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. * * * Jeans for Genes Day 10th anniversary appeal 7th October 2005: Are you taking part? Please send me your Jeans for Genes stories and photos for inclusion on the site later this year. * * * The Muscular Dystrophy Campaign have now updated their factsheet on CNM / MTM - to obtain your copy contact Eva Wall, Information Officer via their website. * * *

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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 ..... I’m Toni; my father and I were diagnosed with 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 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.

IMPORTANT NEWS
The Beggs laboratory along with several labs in Europe, has identified a new gene involved in autosomal ominant centronucelar myopathy. The new gene is known as DNM2, named after its protein product dynamin 2. Alterations in one section of the gene were found to cause the protein product not to function properly, resulting in the development of muscle weakness and other features characteristic of CNM. Alterations in other sections of DNM2 have previously been shown to cause another unrelated hereditary condition, Charcot-Marie-Tooth disease.

This discovery will allow for improved diagnosis of individuals with autosomal dominant CNM through genetic testing and will also provide a better understanding of the cause of all forms of CNM, hopefully allowing for the development of treatments and cures for CNM and other congenital myopathies in the future. The

Our Webshop

Purchases made through the Information Point webshop have so far enabled us to donate £ ($ ) 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.
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.

The minimum for cheques to be awarded is £20.00 and we have already raised a further £19.36 so we are well on the way to receiving our next cheque.
Fromn 1st November to 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%.
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. It is worth visiting all 3 sites wherever you are in the world as many of the vendors offer free international delivery. The 3 webshops now occupy a prominent position at the top of the website following requests from visitors who were unable to find them.

Making a Donation

It is now also possible to donate to the Beggs Laboratory at Children's Hospital Boston for research into Centronuclear and Myotubular Myopathy via this website.
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.

Research

The Harvard Neuromuscular Disease Project

Research into CNM / MTM is done by The Harvard Neuromuscular Disease Project.
My father and I took part in the project in August 2004 - we were supplied with easy to follow instructions and all postage costs were paid. Although a blood draw is the conventional and preferred method by which to obtain DNA, this research laboratory allows it participants the option of donating saliva for DNA analysis. By testing saliva rather than blood, patients are able to take their own samples at home.

While examining the muscle tissue of affected patients is an important part of their research, donating a muscle sample is NOT required of participants; they never ask participants to have a biopsy for the sole purpose of their research. Participation is completely voluntary and can be withdrawn by you at any time, so you never have to do anything that you do not want to do.

The doctors affiliated with Harvard Medical School are now considered the store house for information and research on CNM / MTM in the USA. They have over 300 people with different congenital myopathies involved in their research and more than 40 of those have CNM / MTM.

CNM / MTM is a very rare condition; to put this into perspective, Duchenne Muscular Dystrophy affects about 1 / 3500 male births or 1 in 7000 children born. In contrast, MTM and CNM are so rare that there are not good estimates of their incidence, a guess-timate would be somewhere in the range of 1 in 50,000 to 1 in 500,000, which makes it harder to study due to less financial support and fewer patients. Therefore, despite the challenge of trying to find participants with MTM and CNM, the more patients that can be found to be involved, the more likely researchers are to make progress. Although participation may not result in any direct benefit to the participant, it will help to pave the way to a time when treatment may be possible.

To participate in The Harvard Neuromuscular Disease Project click here.


University of Chicago Clinical Genetic Testing

The University of Chicago (UC) does clinical testing for the MTM1 gene, which causes the X-linked form of MTM. A patient can send a blood sample to UC for clinical testing on MTM1. If that comes back negative (no mutation found), then they can enroll on the research programme in the hope that a gene that is the cause of the disease is found in the future. There IS a charge generated for any clinical testing in the USA and a report from the lab is generated to document if they did or did not find a mutation in the MTM1 gene.

There are definitely other genes involved in MTM / CNM that are yet to be found, however, myotubularin is the only gene that has been identified so far. Research being undertaken both at Boston and Chicago is therefore extremely important if a cure is to be found.


Hammersmith Hospital Research

Here in the UK Professor Francsco Muntoni at the Hammersmith hospital is making significant scientific breakthroughs into congenital myopathies and has received final year funding from this years Jeans for Genes Day appeal for his work. Since the mid 1990’s Professor Muntoni and his team have played a key role in identifying the group of genes responsible for causing the congenital muscular dystrophies. Professor Muntoni now knows that there are more than a dozen forms of congenital muscular dystrophy and believes there are many more to be found. By identifying which genes cause the condition better understanding into how it affects individuals patients will be gained. 'In the last month alone one new gene and one chromosomal location of a new gene have been identified. We are also aware, through our network of European collaborators, that another gene has just been identified’. With so much good news the possibility of developing a treatment for congenital muscular dystrophy is now a real possibility. Professor Muntoni explains ‘Our understanding of the disease has increased because we have identified common themes in protein defects. This has allowed us to start lab testing some hypotheses for treatments.’ Source: Target MD Magazine.

For further information, articles, reviews and reports please visit our
Research Developments page.

Jeans for Genes Day

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, my dad (who recently told me he adds the site into the favourites of any computer he uses, in libraries and on holiday etc - good work raising awareness dad) and Elizabeth Taylor at the Beggs Laboratory.

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


toni.abram1@btopenworld.com

Toni, August 2005

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

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