LGMD-2B (Dysferlin)

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.

Quest takes a look at gene therapy, 'antisense' and other cutting-edge scientific approaches and how they're being applied to diseases in MDA's program

posted on July 1, 2011 - 4:15pm
QUEST Vol. 18, No. 3
Antisense oligonucleotides block flawed genetic instructions Antisense oligonucleotides — also called antisense, oligos, or simply AONs — are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.

An MDA-sponsored meeting explored progress in five key therapeutic strategies under development for neuromuscular diseases

posted on March 18, 2011 - 3:30pm
Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas. Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and...
posted on October 1, 2009 - 1:53pm
QUEST Vol. 16, No. 4
The following article contains items about: Friedreich's ataxia, Charcot-Marie-Tooth disease, myotonic muscular dystrophy type 1, amyotrophic lateral sclerosis, Emery-Dreifuss muscular dystrophy and distal muscular dystrophy (Miyoshi myopathy)