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Desmin Related Myopathy

What is Desmin Related Myopathy?

Desmin Related Myopathy is a disorder characterized by mutation in the gene for desmin which prevents it from forming protein filaments.

 

Desmin Related Myopathy is a disorder characterized by mutation in the gene for desmin which prevents it from forming protein filaments.
Acknowledgement of Desmin Related Myopathy has not been added yet.
Prevalence Information of Desmin Related Myopathy has not been added yet.
Synonyms for Desmin Related Myopathy has not been added yet.
Cause of Desmin Related Myopathy has not been added yet.
Symptoms for Desmin Related Myopathy has not been added yet.
Diagnosis of Desmin Related Myopathy has not been added yet.
Diagnostic tests of Desmin Related Myopathy has not been added yet
Treatments of Desmin Related Myopathy has not been added yet.
Prognosis of Desmin Related Myopathy has not been added yet.
Tips or Suggestions of Desmin Related Myopathy has not been added yet.
References of Desmin Related Myopathy has not been added yet.
Hello! Created by spion
Last updated 5 Oct 2009, 08:16 AM

Posted by Muroc
5 Oct 2009, 08:16 AM

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

Posted by spion
24 Mar 2009, 10:33 AM

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

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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.

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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...

27 years old. Cardiomyopathy/CHF/pacemaker/defibrillator recently diagnosed with desmin myopathy.

 

 

Starting my own non-profit!!

 

 

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42 years old Asian male, with Desmin myopahty - diagnosed 12 years ago and becoming slowly immobile. was fine for the first 10 years but seem to be rapidly loosing using use of legs and arms. Also...

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Hello!

Created by spion | Last updated 5 Oct 2009, 08:16 AM


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