Desmin Related Myopathy is a disorder characterized by mutation in the gene for desmin which prevents it from forming protein filaments.
Hi spion, Yes please ! - cannot find much except the clinical side of desmin related myopathy. I was diagnosed a few weeks ago. Was an active 50 year old, could run up and down stairs etc. now, 12 months later, I'm in a wheel chair - legs are useless - and my arms and hands are going the same way. Cheers
Hi anyone, everyone, quite happy to talk bout any aspects of this illness, not an expert but have been living with it for 15 years. spion
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
I am a Pediatrician who has trained in Clinical and Molecular Genetics From the Christian Medical College, Vellore. At present I am working in the Kamalnayan Bajaj Hospital Aurangabad a s a...
Starting my own non-profit!!
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.