CMT-1 / Hypertrophic Neuropathy

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

posted on January 1, 2012 - 3:11pm
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.

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.

Streamlined diagnostic procedures, better data collection, a new clinical trials network and new laboratory research are the foundations of MDA's CMT program

posted on June 30, 2011 - 1:27pm
QUEST Vol. 18, No. 3
It begins with weakness in the muscles of the lower legs and feet, causing frequent tripping and ankle injuries. Feet are often so high-arched that comfortable shoes can’t be found. Hands also can be affected, making it difficult to hold a pencil, type on a computer or play a musical instrument. Loss of sensation in the lower legs, feet, hands and forearms often occurs. Although not as...

An Australian trial yields mixed results, and a U.S. trial nears completion.

posted on July 27, 2009 - 5:00pm
A recent trial has shown inconclusive results from various doses of vitamin C (ascorbic acid) in patients with the peripheral nerve disease type 1A Charcot-Marie-Tooth disease (CMT1A), and the jury remains out on this form of treatment, says Michael Shy, an MDA grantee at Wayne State University in Detroit.
posted on June 1, 2001 - 2:36pm
In this issue: research news on Pompe disease, Becker and Duchenne MDs, Charcot-Marie-Tooth disease, limb-girdle and myotonic MDs, spinal bulbar muscular atrophy, myasthenia gravis and nemaline myopathy