Disease registries are seeking participants with CMD, FSHD, LGMD, MMD and Pompe disease
FSHD, MMD: Registry remains open
The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.
A Web-based database invites participation by people with the type 2A (calpain 3-deficient) form of limb-girdle muscular dystrophy
A recently opened global registry — a database of patient information — is seeking people with the type 2A form of limb-girdle muscular dystrophy (LGMD2A), a form of LGMD that results from a deficiency of the calpain 3 protein.
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.
Scientists have identified a protein cluster that patches damaged muscle-fiber membranes in muscular dystrophy.
Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies.
The Muscle-Fiber Membrane