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
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.
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
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)