logo
g Text Version
Beauty & Self
Books & Music
Career
Computers
Education
Family
Food & Wine
Health & Fitness
Hobbies & Crafts
Home & Garden
Money
News & Politics
Relationships
Religion & Spirituality
Sports
Travel & Culture
TV & Movies

dailyclick
Bored? Games!
Nutrition
Postcards
Take a Quiz
Rate My Photo

new
European Travel
Action Movies
Bible Basics
Houseplants
Romance Movies
Creativity
Family Travel


dailyclick
All times in EST

Full Schedule
g
g Neuromuscular Diseases Site

BellaOnline's Neuromuscular Diseases Editor

g

Congenital Muscle Disease Registries


Recently, several new registries for individuals with various forms of congenital muscle disease have been started. These registries create databases in order to improve awareness, research effectiveness, and communication within disease population regarding research and treatment. Participation is voluntary and confidentiality and privacy of information will be protected.

The Congenital Muscle Disease International Registry (CMDIR), a new registry for those with congenital muscle disorders, recently began collecting demographic and disease-related information. This registry focuses on those with congenital muscular dystrophies and myasthenic syndromes, including the limb girdle spectrum disorders. Unlike many registries, administrators of this database encourage individuals and families with a known history of undiagnosed congenital muscle disease to register: These individuals and families can receive assistance in pursuing genetic testing from the CMDIR, as well.

The goals of this registry include improving understanding, increasing awareness, and promoting research of congenital muscle disorder, with an ultimate goal to improve treatment and care. Registered individuals will also receive information that helps them to improve personal care and support as well, including a newsletter and notice regarding clinical trials and new treatments as they become available. Currently, the CMDIR allows individuals to register in several languages, including Spanish, Chinese, Portuguese, and English. The site notes that new languages will soon be available.

Individuals with limb-girdle muscular dystrophy (LGMD) and type 1C form of congenital muscular dystrophy (MDC1C) [both diseases caused by mutations in the gene for fukutin-related protein (FKRP)] may also consider registering for the Global FKRP Patient Registry. (The rarer conditions of muscle-eye brain disease and Walker Warburg Syndrome, also caused by mutations in the FKRP gene, are also included in this registry.) This international registry was started in 2011 and is part of the TREAT-NMD Neuromuscular Network. Goals of this registry include directing individuals to appropriate clinical trials, increasing knowledge regarding these diseases, and improving equality of access to care.

Those with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A), caused by a deficiency of the calpain 3 protein, should also consider registering in another new global registry. Called the LGMD2A Patient Registry, this registry is overseen by the Coalition to Cure Calpain 3. Organizers of this database wish to improve knowledge regarding the prevalence of this disease, increase awareness, and assist researchers. Available in English and German, additional languages will be available soon.

Resources:

Congenital Muscle Disease International Registry (CMDIR) website, (2012). Retrieved from http://www.cmdir.org/ on April 5, 2013.

LGMDA2A Patient Registry website, (n.d.). Retrieved from http://www.lgmd2a.org/ on April 5, 2013.

TREAT-NMD Global FKRP Registry website, (n.d.). Retrieved from https://www.fkrp-registry.org/ on April 5, 2013.

Wahl, M., (2011). Global CMD1C/LGMD2I Registry Opens. Quest. Retrieved from http://quest.mda.org/news/global-cmd1clgmd2i-registry-opens on April 5, 2013.

Wahl, M., (2013). LGMDA2A Registry Seeks Participants. Quest. Retrieved from http://quest.mda.org/news/lgmd2a-registry-seeks-participants on April 5, 2013.

Wahl, M., (2013). Registry Seeks Participants with Congenital Muscle Disorders. Quest. Retrieved from http://quest.mda.org/news/registry-seeks-participants-congenital-muscle-disorders?utm_source=Monthly+Summary+-+March+2013&utm_campaign=Monthly+Summary+4+4+13&utm_medium=email on April 5, 2013.


Add Congenital+Muscle+Disease+Registries to Twitter Add Congenital+Muscle+Disease+Registries to Facebook Add Congenital+Muscle+Disease+Registries to MySpace Add Congenital+Muscle+Disease+Registries to Del.icio.us Digg Congenital+Muscle+Disease+Registries Add Congenital+Muscle+Disease+Registries to Yahoo My Web Add Congenital+Muscle+Disease+Registries to Google Bookmarks Add Congenital+Muscle+Disease+Registries to Stumbleupon Add Congenital+Muscle+Disease+Registries to Reddit




Find out more about research registries.
Should you consider genetic testing?
Read about legislative advocacy.
RSS
Related Articles
Editor's Picks Articles
Top Ten Articles
Previous Features
Site Map


For FREE email updates, subscribe to the Neuromuscular Diseases Newsletter


Past Issues


print
Printer Friendly
bookmark
Bookmark
tell friend
Tell a Friend
forum
Forum
email
Email Editor


Content copyright © 2014 by Jori Reijonen, Ph.D.. All rights reserved.
This content was written by Jori Reijonen, Ph.D.. If you wish to use this content in any manner, you need written permission. Contact Jori Reijonen, Ph.D. for details.

g


g features
What is the 21st Century Cures Initiative?

MDA Free Informational Resources

Worldwide Neuromuscular Disease Consortia

Archives | Site Map

forum
Forum
email
Contact

Past Issues
memberscenter


vote
Poetry
Daily
Weekly
Monthly
Less than Monthly



BellaOnline on Facebook
g


| About BellaOnline | Privacy Policy | Advertising | Become an Editor |
Website copyright © 2014 Minerva WebWorks LLC. All rights reserved.


BellaOnline Editor