CMT-2

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?

Recent developments in Charcot-Marie-Tooth disease include CMT2E research mice, CMT1A stem cells, progress toward CMT1A gene therapy and a new pediatric disability scale

posted on May 4, 2012 - 9:50am
Charcot-Marie-Tooth disease (CMT) is a peripheral nerve disorder that can be caused by mutations in more than 50 different genes. Recent research has resulted in several new tools that will help advance the work of researchers in this field.

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...

A multinational study supported by MDA and NINDS will study correlations between mutations and symptoms in four subtypes of Charcot-Marie-Tooth disease

posted on November 10, 2011 - 6:00am
A large-scale study, supported in part by MDA, seeks to determine the natural history (general disease course) of four subtypes of Charcot-Marie-Tooth disease (CMT), with particular emphasis on correlations between genetic mutations and symptoms. The four subtypes are CMT1B, CMT2A, CMT4A and CMT4C.

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.

Are myelin and axons 'talking' to each other — and what are they saying?

posted on July 1, 2011 - 3:52pm
QUEST Vol. 18, No. 3
MDA-supported research in Charcot-Marie-Tooth disease is focused on figuring out what goes wrong at the molecular level in CMT-affected axons or the myelin sheaths that surround them, rather than on attempting to fix the problem directly or preserving nerve function in spite of it. A central theme emerging from the last decade of research is that myelin and axons require constant signals from...

Individuals with CMT are encouraged to participate in a new international database

posted on July 1, 2011 - 3:40pm
QUEST Vol. 18, No. 3
The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward. Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.