New understanding of how the alpha-dystroglycan protein is glycosylated (sugar-coated) may have relevance for treating some forms of congenital and limb-girdle muscular dystrophy
Glycosylation — "sugar-coating" — of the muscle protein alpha-dystroglycan is known to be a crucial part of muscle function.
Without sufficient glycosylation, alpha-dystroglycan doesn't stick well to other proteins, and an important linkage between muscle fibers and their surroundings is disrupted.
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.
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...
Researchers at six centers are studying possible cardiac benefits of dietary supplement coenzyme Q10 and cardiovascular drug lisinopril in three MD forms
Researchers at five U.S. and one Canadian center are conducting a clinical trial of the medications coenzyme Q10 and lisinopril to determine their possible beneficial effects on heart function in Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and five forms of limb-girdle muscular dystrophy (LGMD).
A global registry has been launched for people with conditions caused by mutations in the FKRP gene, such as LGMD2I and CMD1C
A new registry has been launched for people with conditions caused by mutations in the gene for fukutin-related protein (FKRP). This includes people with the type 2I form of limb-girdle muscular dystrophy (LGMD) and the type 1C form of congenital muscular dystrophy (CMD) and, in rare instances, the congenital muscular dystrophies muscle-eye-brain disease and Walker-Warburg syndrome.
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.