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We are not doctors. This is not medical advice. You need to verify all information provided with your doctors. The information on this site was provided by medical professionals. If your doctors need to verify any of the information on this site please contact us or have your doctors contact us so we my connect them or you with the doctors themselves.

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This site is dedicated to the families and friends of people effected by Emery-Dreifuss Muscular Dystrophy. We want to build a global community to promote supportive communication and education for families, as well as tools to communicate and educate the medical community. Find us on Facebook and our Forum and connect with other families with or effected by EDMD.

GENETIC STUDY FOR EMERY-DREIFUSS MUSCULAR DYSTROPHY


Dr. Peter Kang is conducting a study on the genetic origins of various muscular dystrophies, including Emery-Dreifuss muscular dystrophy, and is open to enrolling subjects at the University of Florida College of Medicine.  


Participation will involve sharing medical records with the study team, as well as selected and optional donation of tissue samples.  Blood and urine samples may be collected for the study, but the only muscle tissues to be collected will be samples already obtained as part of a clinical muscle biopsy.  


Information discovered during the study cannot directly be reported to subjects and clinical care is not involved in the study, but genetic findings may be shared with clinical diagnostic laboratories to facilitate clinical confirmation of potentially relevant results.  


For more information, please contact:

Dr. Peter Kang at pbkang@ufl.edu or 352-273-8921.

New Private Forum Is Here!


We have put the private forum back in place and you can access it from the top menu of the website or by clicking here.

Register with us and we will send you one of our custom bumper stickers. Help support us by displaying our sticker.

GENETIC TESTING - If you are in need of genetic testing please fill out this form. We are in the process of helping to arrange genetic testing for family members or those suspected of having EDMD. Please use the form to the right or on our genetic testing page to request information. Click here for details.

PRIVATE FACEBOOK FORUM - Thanks to one of our community members there is a very active EDMD Forum you can participate in on Facebook. Connect with other members of our community and those around the world diagnosed with EDMD. Click here.

GENETIC INFORMATION - Our new Genetics page provides detailed information on each currently known form of EDMD. Written by Dr. Howard J. Worman of Columbia Presbyterian in New York (USA) and provided by MedLink Neurology (www.medlink.com). Click here to access the new page or use the menu bar at the left.

Genetic Testing  Email us at genetics@emerydreifussmd.org

NEW STUDY PAGE

Why do we need studies?

What are they for?

How is The International Foundation for Emery-Dreifuss Muscular Dystrophy helping the community that we serve?

Click on  our new Study page to find out more!

Located here!

NEW!

MY STORY

How did we get to this point? What drives you despite your EDMD diagnosis? Here we will highlight members stories that show your perseverance in the face of our diagnosis.


You can submit your stories to mystory@emerydreifussmd.org


Click here to see our first published story (my father).  

NEW!

EDMD Registry

Investigators at Columbia University have established an online Registry for patients with EDMD. The Registry will enable the research team to answer questions about the disease, such as:


What is the natural course of the disease?

What are the different variations caused by mutations in the EDMD linked genes?

What process and metrics should be incorporated to track quality of patient care?

Does a treatment lead to long term benefits or harm, including delayed complications?


In addition, the Registry will allow the researchers to contact patients

and in the event of clinical progress or relevant clinical research studies.

If you or a family member has EDMD, or mutation in a linked gene

without symptoms, you or family member may join the Registry.

Click here to join or access the Registry: https://www.sac-cu.org/EDMD

NEW!

Kent State University - Emotional Impact Study

You are invited to participate in a research study examining the social and emotional aspects of living with Muscular Dystrophy as a young adult. This is a qualitative investigation that will require between 2 to 5 hours of your time.


The researcher is recruiting individuals with Muscular Dystrophy who meet the following criteria:

 are between the ages of 18 and 29

 physical symptoms become noticeable after age 9 (termed Juvenile Onset)

 living with a slowly progressive form of the disease such as Limb Girdle, Distal, Becker’s, Facioscapulohumeral and Emery-Dreifuss (not the Duchenne or Congenital forms)

 have been diagnosed with Muscular Dystrophy for at least one year prior to participation

Click here to see entire post.

NEW!