• New Cure CMD T-Shirts Available for Sale

    All orders must be placed by May 31, 2015. The cost ($25) includes the T-Shirt and a small donation to Cure CMD!

    Click here to order your T-Shirts today!

    And Click here to check out our new videos promoting Cure CMD’s mission!

  • Million Dollar Bike Ride May 9

    After a wildly successful inaugural year, Cure CMD is thrilled to again join Penn’s Center for Orphan Disease Research and Therapy to participate in their Million Dollar Bike Ride on May 9, 2015. Year two promises to be an even better event with lots of free food, drink, swag and all day post-ride party fun as well as a beautiful bike ride with fully supported ride rest areas, of course. Hopefully we will also raise even more money for CMD research. Click here to learn more or donate!

  • CMD Family Conference Canceled

    Due to low attendance, we will not be holding a CMD Family Conference this year. In lieu of a conference, we will hold a series of webinars for families to hear about the latest developments in research and care. Once the dates are set for these webinars we will notify you by email and on the Cure CMD Facebook page.

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    Get Counted

    Click here to view the Get Counted Videos

  • Earn Donations for Cure CMD Through Survey Monkey

    Cure CMD is partnering with SurveyMonkey Contribute! Take opinion surveys on SurveyMonkey Contribute, and they will donate $0.50 for every survey you answer. Click here to sign up:

  • Amazon Purchases Can Benefit Cure CMD!

    Shop while benefiting Cure CMD at no extra cost to you! Amazon’s new program, Amazon Smile, will contribute 0.5% of the proceeds of every purchase to Cure CMD! You just need to select Cure CMD as the charity of choice. Let the holiday shopping begin: smile.amazon.com Once you’ve signed up, be sure to use smile.amazon.com to shop at Amazon from now on to make sure your purchases count toward the charitable giving.


Bean’s story

Our little Isabelle, aka, Bean, was our third child.  Due to her breach position, she entered the world via c-section.  Despite many troubles right away with nursing, we considered her to be a normal, healthy, beautiful baby.  She was born with contractures at her ankles, but they thought this was just club feet and would not need more than braces to correct.  As the months went on, we noticed she was not making milestones as she should for her age.  She couldn’t hold her head up when she should have and was overall floppy.   Continue reading Bean’s story

CMD Perspectives: A Journal

Jun 9, 2014: Our journey with Walker Warburg Syndrome: Life, Death and Our Mission to Help Find a Cure

By Brendan Sullivan

As a military veteran who has traveled the world, I experienced more in a 6 year period than many people will ever get to experience.   I’ve been to countries that the majority of people will never be able to travel to.  But I’ve also experienced, twice, something which no one ever wants to experience:  I’ve buried two children in the past 5 years due to a rare form of Congenital Muscular Dystrophy known as Walker Warburg Syndrome (WWS). More…

Read All CMD Perspectives Articles

News and Events

CMD Family Conference Canceled

Due to low attendance, we will not be holding a CMD Family Conference this year. In lieu of a conference, we will hold a series of webinars for families to hear about the latest developments in research and care. Once the dates are set for these webinars we will notify you by email and on the Cure CMD Facebook page.

Connect – Register – Consent

Get Counted

Click here to view the Get Counted Videos

LMNA (L-CMD) Fundraing Campaign to Support Ongoing Research

Cure CMD has supported research for a number of projects – to date funding over $1.5M in research grants. Currently, Cure CMD is funding two of the world’s leading scientists in LMNA research: Drs. Gisele Bonne and Antoine Muchir.

The Dague Family has established a fundraising campaign to help ensure this valuable research continues to be funded. Please click here to visit and support their Crowdrise fundraiser.

For more information on LMNA (L-CMD), please visit the following links:


Using Patient Registries and Multi-Gene Panels: A Paradigm Shift in the Pursuit of Genetic Diagnosis for Rare Pediatric Disorders

Patient registries provide a powerful resource to identify undiagnosed patient cohorts and collect cross-sectional and longitudinal clinical information on those individuals. For rare disorders, such as the congenital myopathies, a patient registry with curated patient-reported and medical report data may serve as the ideal tool to focus molecular testing. Indeed, molecular testing, which utilizes next generation sequencing, has greatly improved the ability to simultaneously analyze multiple genetic loci. The congenital myopathies (CM) comprise a heterogeneous group of heritable muscle disorders. While muscle pathology provides a “muscle biopsy” driven classification, clinical heterogeneity within this classification and the increasing number of implicated genes underscore the need for genetic confirmation. Furthermore, preclinical research has identified gene specific targeted treatments driving a need to prepare genetically confirmed cohorts for future clinical trials. Click here to read the entire article.

News & Events Archive

Current Trials and Studies

Jul 23, 2014: Two New CMDIR Driven CMD Studies

We would like to announce 2 new CMD studies led by the CMDIR (Congenital Muscle Disease International Registry):

  • LMNA History Study will define how weight, ability to walk, breathing and heart function changes over time in infants, children and teens with LMNA-CMD.  This study will use existing CMDIR data, clinic records and hospital reports.  Analyzing data will help provide a better understanding of how LMNA affects a group of infants, children and teens. To participate in the study requires registration in the CMDIR (www.cmdir.org), completion of the CMDIR Intake Survey and Medical Release and genetic confirmation of LMNA-CMD . For more information on the study, contact, Linda Tarbox, CMDIR Volunteer Research Associate atlinda.tarbox@cmdir.org
  • CMD Sleep Study will analyze sleep study reports in children and adults with congenital muscle disease. The goal of this study is to determine the frequency of abnormal sleep study reports and the relationship between sleep study results, forced vital capacity, ambulatory status and need for current ventilatory support. This study will use existing CMDIR data, clinic records and hospital reports.  For more information on this study, contact Rachel Alvarez, CMDIR Associate Director at rachel.alvarez@cmdir.org
We would also like to provide you with updates on 2 ongoing CMD studies led by the CMDIR:
  • MTM Event Study has enrolled 31 participants. 12 participants have completed monthly telephone interviews for one year to assess the rate of change in several parameters including breathing, medications, medical care and hospital admissions.  To participate in the study requires registration in the CMDIR and genetic and/or muscle biopsy confirmation of myotubular myopathy. For more information on this study, contact Sabine de Chastonay, CMDIR Volunteer Research Associate at sabine.dechastonay@cmdir.org
  • CMD Breathe Study will analyze current respiratory issues and care provided to registrants in the CMDIR, including a separate survey of US and Canadian pediatric pulmonologists. This study has closed to participation and the CMDIR would like to thank all families that participated in this study. Data analysis is ongoing- and results will be summarized and provided to the community.
The CMDIR or Congenital Muscle Disease International Registry is an international registry focused on congenital myopathy, congenital muscular dystrophy and congenital myasthenic syndrome. The CMDIR was established to support clinical trials and provide data to evaluate current care and inform best practices.  For more questions on the CMDIR, please contact Rachel Alvarez, CMDIR Associate Director.

Nov 15, 2013: Collagen VI Hyperinsufflation Study

This research study includes children ages 5 to 20 years old with Collagen Type 6 Congenital Muscular Dystrophy. The goal of this study is to measure the effect of breathing exercise to stretch the chest in slowing the loss of breathing function. The breathing stretches are done with a machine called Cough Assist®. Click here for more information.

Trials and Studies Archive

Cure CMD Research News

May 6, 2014: Standard Operating Protocols to Evaluate CMD Mouse Models

Cure CMD has been working with the scientific community to develop standard operating protocols to evaluate CMD mouse models.  This work has been co-funded by the AFM and led by Dr. Raffaella Willmann. Developing a standard way to evaluate mouse models, assists Cure CMD in evaluating the size of the effect of any intervention and allowing data comparisons between labs.


Research News Archive

Medical Headlines from Other Websites

May 28, 2015: Modifying stem cells shows initial promise in battle against muscular dystrophy

A group of University of Florida Health researchers has found a way to reverse the effects of one type of muscular dystrophy by editing the genome of nervous system stem cells.

May 25, 2015: Scientists create mice with a major genetic cause of ALS and FTD

NIH-funded study provides new platform for testing treatments for several neurodegenerative disordersScientists at Mayo Clinic, Jacksonville, Florida created a novel mouse that exhibits the...

Medical Headlines Archive

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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