Myotonic Dystrophy Foundation

HOUSTON, TX  -- Using drugs to block the action of an enzyme called protein kinase C can reduce or even eliminate heart problems in mice with myotonic dystrophy, said researchers from Baylor College of Medicine in a report that appears today in the Journal of Clinical Investigation.

"The disease is very severe in these mice," said Dr. Thomas Cooper, professor of pathology and molecular and cellular biology at BCM and senior author of the report. "Eighty percent of them die within three weeks of turning on the mutation. If we give an inhibitor of protein kinase C, less than 20 percent die."...more

EUGENE, OR -- A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.

The five-member team reports that pentamidine, when tested in genetically altered mice, counters genetic splicing defects in RNA that lead to type 1 myotonic dystrophy -- one of nine types of muscular dystrophy -- also known as DM1 and Steinart's disease...more

This video was taken at the 7th International Myotonic Dystrophy Consortium (IDMC-7) meeting in Wurzburg, Germany on September 12, 2009.  The speaker, Dr. Charles Thornton, M.D., of the University of Rochester Medical Center, is giving a talk to explain the basic science of myotonic dystrophy during a patient session at the conference... more.

This video was followed by a talk from Dr. Maury Swanson, Ph.D., from the University of Florida, on new developments in therapies for myotonic dystrophy. View the MDF YouTube Channel for more videos.

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This video is from the 7th International Myotonic Dystrophy Consortium (IDMC-7) meeting in Wurzburg, Germany on September 12, 2009. The speaker, Dr. Maury Swanson, Ph.D., from the University of Florida, is speaking on new developments in therapies for myotonic dystrophy...more

This video was preceeded by a talk from Dr. Charles Thornton, M.D. of the University of Rochester Medical Center, who explains the basic science of myotonic dystrophy during a patient session at the conference.  View the MDF YouTube Channel for more videos.

The MDF was proud to be a part of the 9^th Annual Myotonic Dystrophy Family Conference in Manhattan Beach, CA, October 3-4, 2009. The coalition of sponsoring groups brought important research updates, information about diagnosis, treatment, and daily living issues to assist individuals living with myotonic dystrophy, families,healthcare providers and the community. The MDF sponsored the family workshops held on Saturday. These interactive breakout sessions focused on specific needs of families living with myotonic dystrophy. Families and healthcare professionals discussed best practices in three groups: congenital/childhood myotonic dystrophy, myotonic dystrophy type 2 and caregivers. It is our hope that everyone walked away from these workshops with new ideas, new friends, and better informed...more

On the last day of the International Myotonic Dystrophy Consortium (IDMC-7) conference, the MDF awarded its “Excellence in Research” awards. These bi-annual $1,000 awards were established in 2007 to encourage scientists and researchers presenting abstracts for the first time at this conference. The recipients are selected by a panel of International peer reviewers for their work in advancing the science of myotonic dystrophy. The MDF’s Managing Director, Lisa Vittek, presented awards to Amanda Ward from Baylor College of Medicine, in Houston, Texas, for her work “Testing the role of CUGBP1 in skeletal muscle wasting in DM1” and Dr. Riccardo Perbellini, from Policlinico San Donato, University of Milan for his work, “Aberrant expression of microRNA’s in myotonic dystrophy.” ...more

The MDF was honored to present Shannon Lord, Former Chairman of the Myotonic Dystrophy Foundation and Margaret Bowler, National Coordinator for Myotonic Dystrophy Support Group in the United Kingdom, with the Myotonic Dystrophy Foundation’s Lifetime Achievement Awards at a ceremony held during International Myotonic Dystrophy Consortium (IDMC-7) in Würzburg, Germany on September 9, 2009. The awards were presented by Dr. Richard Moxley and Dr. Peter Harper, two leading researchers in the field. The awards were our way of acknowledging Shannon and Margaret’s long time advocacy on behalf of the myotonic dystrophy community world-wide.

The University of Washington, Aging Rehabilitation Research and Training Center, Department of Rehabilitation Medicine is announcing a new study on aging with a disability (muscular dystrophy, multiple sclerosis, post-polio syndrome and spinal cord injury).  The purpose is to understand how aging impacts your life with a disability, and what to expect long term as a person with a physical disability ages. The most fundamental requirement for increasing knowledge and developing effective treatments is the availability of reliable, sensitive, and meaningful ways of measuring things like pain, fatigue, mobility, and communication, and their effects on day-to-day functioning...more