Kearns-Sayre Syndrome - KSS

The rapid pace of research, unprecedented number of treatments in clinical trials and opportunities to share ideas across diseases made for an exciting 2013 MDA Scientific Conference

posted on April 25, 2013 - 4:51pm
Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24. A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in...

EPI-743, an experimental compound that helps mitochondria generate energy, is being tested in mitochondrial and metabolic disorders; a trial in Friedreich's ataxia is planned

posted on November 16, 2012 - 5:00am
Update (Jan. 7, 2014): The trial of EPI-743 in Leigh syndrome is no longer accepting new participants.

Longtime MDA grantee Michio Hirano, M.D., talks about the science of treating genetic disorders of energy production

posted on October 1, 2012 - 9:25am
QUEST Vol. 19, No. 4
On a Thursday afternoon in July 2012, Michio Hirano, a professor of neurology, was in his office at Columbia University Medical Center, high above Manhattan’s upper west side.

The North American Mitochondrial Disease Consortium seeks to facilitate research by collecting information and biological samples from people with mitochondrial disorders and their family members

posted on August 16, 2012 - 6:00am
If you or someone in your family has or is suspected of having a mitochondrial myopathy or other disorder of the mitochondria, the North American Mitochondrial Disease Consortium (NAMDC) would like to hear from you.

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.

Frequently asked questions about cardiac problems in neuromuscular disease

posted on June 1, 1999 - 5:00pm
Part 1 of this series (Quest, Vol. 6, No. 2) addressed cardiomyopathy, the degeneration of heart muscle that often occurs in many neuromuscular diseases.