The pace of research can seem unreasonably slow; here are a few reasons why
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
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
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?
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
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
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...
Investigators from Wayne State University found that five genetic subtypes of Charcot-Marie-Tooth disease accounted for more than 99 percent of diagnoses
Editor's note: This story was updated Feb. 4, 2011, to reflect the availability of a paper and editorial on this subject in Annals of Neurology.
Results of genetic testing done at Wayne State University in Detroit of more than 1,000 people suspected of having Charcot-Marie-Tooth (CMT) disease were presented by MDA grantee Michael Shy and colleagues April 14, 2010, at the annual meeting of the...