Miyoshi Distal Myopathy - MM (Dysferlin)

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

My crutches were a source of anxiety about not looking ‘normal,’ until I learned to let go by just holding on to them

posted on January 9, 2014 - 9:27am
Quest Winter 2014
When I fell several months ago and couldn’t get up under my own power, I knew it was time to let go. Or rather, time to finally grab a hold. Christopher Anselmo For the first 26 years of my life, I could walk on my own with confidence. But on that day, as I propped myself up using the bumper of a car and a mailbox, I realized that was no longer the case. 

More than 40 new grants support new drug development, greater understanding of disease processes and more efficient diagnosis of neuromuscular diseases

posted on February 4, 2013 - 9:37am
The Muscular Dystrophy Association has awarded 44 new grants totaling $13.6 million to advance the understanding and treatment of neuromuscular diseases. The new grants, most of which took effect Feb. 1, encompass a range of diseases covered by MDA’s research program, and they support innovative approaches to basic research and new drug development. In addition to addressing 16 specific...

Investigators will determine how best to measure and track symptoms of dysferlin deficiency, with the goal of defining outcome measures for use in clinical trials

posted on September 25, 2012 - 10:15am
Update (July 17, 2014): This story has been updated to reflect that recruitment for this study has been extended through Aug. 31, 2014; that Sarah Shira is now the person to contact at the Jain Foundation; and that the foundation is now located in Seattle. ===================================================================================

A new zebrafish research model may speed myofibrillar myopathy research; published results of a gene transfer study in LGMD are now accessible

posted on July 18, 2012 - 9:37am
Update (Aug. 8, 2012): This story was updated to reflect the availability of a podcast on the dysferlin gene transfer study. Zebrafish research models mimic myofibrillar myopathy

The pace of research can seem unreasonably slow; here are a few reasons why

posted on January 1, 2012 - 3:11pm
QUEST Vol. 19, No. 1
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

The biggest problem at an ER may not be the one you go in with, but the one you encounter there

posted on July 1, 2011 - 4:18pm
QUEST Vol. 18, No. 3
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.