Top researchers are discussing notable developments in neuroscience, including research in many neuromuscular diseases, at the annual American Academy of Neurology meeting April 21-28
Top scientists and clinicians from around the world are discussing the latest research in neuroscience, and the care of individuals with nerve and muscle diseases, at the 2012 annual meeting of the American Academy of Neurology in New Orleans, April 21-28.
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.
Researchers have identified different mutations in a gene called TRPV4 as causing type 2C CMT and two rare forms of SMA.
Three teams of researchers in the United States and Europe have identified specific mutations in a chromosome-12 gene for the TRPV4 protein that tie together the origins of type 2C Charcot-Marie-Tooth disease (CMT2C) and two rare forms of spinal muscular atrophy (SMA).
This report provides an overview of spinal muscular atrophy (SMA), a disease in which a loss of nerve cells in the spinal cord causes weakness or paralysis of variable severity.
The International Spinal Muscular Atrophy Patient Registry, founded in 1986 at Indiana University, brings together individuals and families affected by SMA, and researchers studying SMA.
The Registry contains information from more than 1,600 families and 1,700 individuals with SMA around the world. In addition to recruiting participants for clinical trials and providing data for SMA research...