General Information on DM1

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This is a diagram or the major effects of Myotonic Dystrophy on the Human. Click to enlarge

The Blog. You’ve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy  Worldwide. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. One out of two children of a person  with myotonic dystrophy will most likely have  the disease. Unlike most diseases, the symptoms that a person with this disease varies from person to person. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person. <<<BREAKING NEWS DRUG TRIAL BEGINS TO TEST IF DISEASE  DM1 CAN BE REVERSED>>>

Myotonic dystrophy is a rare disease with an incidence of about one in 8000 in European and North American Populations. The incidence in Japan is approximately 1 in 20,000. In Africa and China the incidence is much lower.  The incidence of the congenital form of myotonic dystrophy  is much lower with an incidence of 1/100,000. A more recent study by Campbell in Canada put the incidence of the congenital form at 1/47,000 That means that most doctors will not have a patient with the disease in their practice. Thus, many people are turning to organizations like the Myotonic Dystrophy Foundation for help and assistance.

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Patients even with short CTG repeats with Myotonic Dystrophy may have cardiac issues

A new case study has found that some patients with short DM repeats less than 100 who may not have symptoms of the disease may in fact be troubled with cardiac issues. Here is a full text of the study’s conclusions

This case shows that MD1 with <100 CTG repeats may
exclusively manifest cardiologically, that family screening
for MD1 is important even in asymptomatic patients, and
that MD1 may initially manifest with atypical clinical features.
Muscle biopsy in MD1 may be misleading and may
indicate glycogenosis. Close cardiac follow-up is important
if MD1 manifests cardiologically to prevent syncope or SCD.

 

Patients even with short repeats may have cardiac issues may 2015

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Family Day at IDMC-10 Looks Wonderful

There will be a family day free of charge at the IDMC10 conference in Paris this year. Every two years hundreds of researchers gather to discuss the latest and greatest in the field. This year the meeting is June 8-12th in Paris France.At the end of the conference there is generally a patient day where new information about the disease is released to the public in a less scientific way.  Here is an outline of the family Program

IDMC10 meets Families’ Day of AFM-Telethon

June 12, from 15:00.

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Draft report from the Muscular Dystrophy Coordinating Committee

The Muscular Dystrophy Coordinating Committee (MDCC)
MDCC is a government mandate to try and coordinate the research establish to coordinate activities to find cure, treatment and handling daily living of People with Muscular dystrophy : The Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 (MD-CARE Act; P.L. 107-84) authorized the establishment of the MDCC, with members appointed by the Secretary of the Department of Health and Human Services, in order to coordinate activities across the National Institutes of Health (NIH) and with other Federal health programs and activities relevant to the various forms of muscular dystrophy. The MDCC was subsequently re-authorized in the MD-CARE Acts of 2008 and 2014, with changes in its composition with each re-authorization.

Click Below for full copy of the Plan

MDCC Action Plan 2015 draft

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Florida Funding attract Key Myotonic Dystrophy Researchers to University of Florida

Building a Preeminent Research Program: The Center for NeuroGenetics

As an introduction to this newsletter, please check out a video created by Eric Wang, Ph.D., who is joining UF as an assistant professor of molecular genetics and microbiology in the Center for NeuroGenetics. This edition of On The Same Page is the story of how new and existing faculty can come together to create preeminent research programs.

In the UF community, the concept of “preeminence” has been used quite a bit of late. Florida’s “Preeminence Bill,” signed into law during the 2013 legislative session, designated the University of Florida as a preeminent university in the state. To help UF attain its goal of becoming a top 10 public university, a section of this bill provides funds to UF for the purpose of attracting outstanding faculty to advance our research mission.

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More potential good news…. TWEAK Treatment for DM1?

A new article was published from one of the major research centers that researches myotonic dystrophy…. While drug trials are starting very few people this year will be able to access the drug and only 1/2 will get the drug and the other 1/2 will get placebo. Now comes news that a therapeutic agent that is currently available has the theoretical ability to help with myotonic dystophy muscle restoration. While the full article is not available yet here is the abstract from PubMed (below)

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