Research

Updates

Researchers have given many presentations about the National Registry this past year. These presentations were given at research conferences, government sponsored health and research workshops, and meetings for patient support groups. A description of some of these presentations is listed below:

Presentations from the leaders and staff of the Registry

Burden of Muscle Disease Workshop (January 2005)
The Burden of Muscle Disease Workshop sponsored by the National Institutes of Health (NIH) invited top researchers in several fields including medical economics, physical therapy, psychology, muscular dystrophy, and cell biology to attend this conference. The Registry presentation illustrated that the burdens of DM and FSHD extend beyond physical symptoms, by affecting areas such as employment, mood and sleep. The additional support that patients often need, including medication, canes, wheelchairs and therapies was also discussed.

International Myotonic Dystrophy Consortium (October 2005)
Presented information collected from all members of the Registry about the burdens of DM and offered improvements for measuring patient reported symptoms at a research conference sponsored by the International Myotonic Dystrophy Consortium. Researchers and patients from all around the world attended this conference in Quebec City, in October, 2005 to learn about new advances and research in Myotonic Dystrophy.

American Academy of Neurology meeting (April 2006)
The American Academy of Neurology meeting, is described as “one of the world's largest gatherings of neurology professionals, bringing together more than 10,000 neurologists and neuroscientists.” Our poster described the short term progression of DM and FSHD symptoms using information that was gathered from Registry members annual update forms. The presentation also sought to encourage researchers to take advantage of the valuable resource that the Registry provides. A section of our presentation was included in a program that highlighted the most interesting and relevant research being presented in the area of neuromuscular diseases.

Presentations from investigators using the Registry

Hypersomolence in Myotonic Dystrophy
Dr. Emma Ciafaloni from the University of Rochester Medical Center has presented information about the effects of excessive sleepiness in Myotonic Dystrophy at several research conferences. She has presented information at the American Academy of Neurology, Associated Professional Sleep Societies, and the International Myotonic Dystrophy Consortium. Her research indicates that excessive sleepiness is highly prevalent in DM patients but the reason or biological mechanisms for this sleepiness remain unknown. Future research may help discover the reasons and lead to new treatments.

Pregnancy and delivery outcomes in FSHD
Dr. Ciafaloni has also presented about the course and outcome in pregnancy from women with FSHD at the American Academy of Neurology Conference. Her research found that pregnancy and birth outcomes were generally favorable in this group of women with FSHD. However, the rate of a certain obstetrical issues such as increased number of cesarean sections supports the need for additional research.