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Registry Seeks Participants with Congenital Muscle Disorders

Disease registry seeks input from people with congenital muscular dystrophies, congenital myasthenic syndromes or other congenital muscle disorders, including those with no clear diagnosis

Article Highlights:
  • The Congenital Muscle Disease International Registry (CMDIR) is an online database of demographic and disease-related information from people with congenital muscle disorders, or from their parents.
  • The purpose of the registry is to improve understanding of and awareness of the congenital muscle disorders, as well as promote research and improve standards of care.
  • In addition to seeking individuals with a known congenital muscle disorder, registry coordinators are interested in hearing from families in which the specific congenital muscle disorder has not been diagnosed; assistance is available for genetic testing.
  • Participation in the registry offers advantages such as improved disease understanding and access to resources and support.
by Margaret Wahl on March 12, 2013 - 12:41pm

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An international patient registry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

The term "congenital" means present at birth. However, some of the diseases covered by this registry also have later-onset forms, which also are included in this registry. To see all of the disorders covered in this registry, see CMDIR Subtypes.

The registry coordinators also are interested in hearing from families in which the specific muscle disorder has not been diagnosed and can assist those who wish to pursue genetic testing.

The registry is being conducted under the auspices of Cure CMD, the Joshua Frase Foundation and A Foundation Building Strength for Nemaline Myopathy, with support from additional sponsors.

Raising awareness, improving care and conducting research

The coordinators of the Congenital Muscle Disease International Registry (CMDIR) say it was created to identify the global congenital muscle disease population for the purpose of raising awareness, developing or improving standards of care, conducting clinical trials, and finding treatments or cures.

"Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual," says a statement on the registry website.

Privacy protection

The online registry asks questions about demographics, disease effects and diagnosis that can be answered by the person with a muscle disorder or a parent. The registry also requests access to medical records, such as those containing genetic test results, biopsy results, pulmonary function tests and other relevant information. Authorization for the registry to obtain these records expires every year and must be renewed.

All information will be maintained in a secure database, and personally identifiable information will not be shared.

Benefits of participation

The CMDIR coordinators say that participation in the registry:

  • drives an improved understanding of your or your child's disorder;
  • allows you to compare the answers you provide to answers provided by others with similar symptoms;
  • allows you to track key indicators of the underlying disease (such as heart tests results) over time;
  • allows you to request assistance in understanding genetic test results;
  • gives you access to care management guidelines;
  • gives you access to online support groups; and
  • provides you with notifications of relevant clinical studies and trials as they arise.

For more information

To learn more about the CMDIR, contact Rachel Alvarez, associate director, at (323) 250-2399 or rachel.alvarez@cmdir.org.

If you wish to complete your registration in a language other than English, send an email to counselor@cmdir.org to learn if registration is available in your preferred language.

Also, read To Register or Not to Register: Should you sign up with a research registry about your disease? to learn more about registries in general.

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I am a woman with limb girdle

Submitted by mumsy1949 on April 4, 2013 - 1:10pm.
I am a woman with limb girdle MD. I was diagnosed at the young age of 16. This disease caused me some troubling times through my high school years. I was bullied my last two years of those dark years, but I successfully graduated with my head held high and was still walking like any other normal teenage girl. I continued to drive all my vehicles purchased throughout those years even after continuing my education at college. I worked on and off until I moved to Florida in 1978. I continued to work and continued to drive until one day I couldn't master the brake anymore and decided to give up my license in 1981. That didn't stop me from pursuing my career. I got other means of transportation back and forth to work. I love going to the beach and making new friends. I am a personable soul and love this wonderful new beginning. I have never let my disability stop me from enjoying life. I do not suffer any pain or discomfort from this disease except for not being able to walk or run. I relied on a manual wheelchair for a long time. I would stand behind that chair and walk and balance myself while I did all my household chores. When I would get tired or finish what I was doing, as long as I could, I would sit back down and rest. I would cook, wash dishes, etc. I did this task up to the point I was told I had to switch to a power chair in order for me to do my job. I worked at my last job for 18 years. I was then laid off due to budget cuts, not because of my disability. Currently,I am still looking for a part time job. I have worked most of life even before moving to Florida. I love being active. I joined a gym and worked out on machines I never thought I could. I participated in Ms Wheelchair Florida three times. Love to bowl, swim, kayak and water ski. There are so many sports I would love to try and do. I also have a sister back in Southern Illinois who was diagnosed with the same limb girdle MD. She was diagnosed at age 21. She has a son who is 41 and he has a daughter. I also have a younger sister, age 57, who has children and they have children. Not one were ever effected. Thank God. My sister, the one who has my type MD, is currently in ICU back home (Southern Illinois) with bilateral pneumonia, using a vent and trach to keep her alive and fighting for her live. She hasn't been as lucky. I am not sure why she has been sufferiing for the past five years with her MD. She has a lot of other health issues she has been battling. She too uses a power chair, but she had been walking until she fell and broke both legs back in 2009. She recovered remarkably, but has gone downhill ever since. All of her doctors blamed most of her health issues on her MD. I was never convinced of that. I want her back home and well again. This is my little story in a nutshell. If you are experiencing any health issues or related depression from your MD, please don't give up and take some advise 'Life is what you make it'. Thank you.
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