Bethlem Myopathy

NEWS UPDATES

Omigapil slated for studies!!!

Please see this link for more info:

For this study to occur we need to raise the funds as stated in the article. Please click on the following link to donate and make sure to choose Omigapil studies under Program Designation.

npo.networkforgood.org/Donate/Donate.aspx

The 2011 annual family conference was held in Philadelphia on July 23rd. Please see curecmd.org for more info.

New Studies

http://www.cmdir.org/index.php?option=com_content&view=article&id=117&trial_status=1&Itemid=234&lang=en

Other Info

The 2010 annual conference on the Collagen 6 related diseases and other Congenital Muscular Dystrophies was held in Philadelphia Aug 14-15, 2010. Please follow this link to see some of the presentations:

http://curecmd.org/conference/conference-presentations

If anyone has pics from the conference they would like for me to post please contact me via the contact us page.

First paper published documenting autosomal recessive occurence of Bethlem Myopathy.

www.nmd-journal.com/article/S0960-8966(09)00650-6/abstract

Our email address has changed. Please use the contact page to send an email to our new address.

Please see the test diagnosis page to find an update on some new information. I apologize for not updating this site in some time. The last 2 years have been difficult as the disease has really started to affect my day to day life more and more.

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WHO I AM...

Hi, my name is Mike Newton and in 2006 I was diagnosed with Bethlem Myopathy. I have started this website in the hopes to bring together those of us that suffer from this very rare disease and to help push for a cure and or treatments. This site contains links to current information about the COL6A diseases and a chat forum for users to post comments.

My Journey
Around 1972 my brother and I started showing signs of some sort of disorder. We were primarily toe walking and had limited strength and stamina. Our parents consulted with our pediatrician who referred us to a neurologist. Our first diagnosis was Kugelberg Weilander disease and in 1976 both my brother and I underwent bilateral heel cord lengthening. Our toe walking had become so bad that surgery was a necessity.