Fukuyama FCMD (FKRP)

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

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

posted on August 13, 2013 - 3:19pm
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.

Investigators have developed lab mice likely to advance understanding of the fukutin-deficient disorders Fukuyama congenital muscular dystrophy and type 2M limb-girdle muscular dystrophy

posted on October 9, 2012 - 5:00am
By disrupting the fukutin gene at different time points in mice embryo, researchers have been able to develop research models of two types of human muscle disease: Fukuyama congenital muscular dystrophy (Fukuyama CMD)  and type 2M limb-girdle muscular dystrophy (LGMD2M).

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

posted on January 1, 2012 - 3:11pm
QUEST Vol. 19, No. 1
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...

A global registry has been launched for people with conditions caused by mutations in the FKRP gene, such as LGMD2I and CMD1C

posted on August 19, 2011 - 2:51pm
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

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.

Researchers are surveying people with a congenital form of muscular dystrophy or myopathy about their perceptions of their quality of life and autonomy

posted on January 26, 2011 - 2:39pm
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence. The study also is recruiting 30 adults with no neuromuscular disease. Results will be used to identify ways that counselors...