Limb-Girdle Muscular Dystrophy (LGMD)

AAN Releases Guideline for LGMD Diagnosis and Care

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

CMD, LGMD: Trial of Breathing Treatment Now Open

Blood-Filtering Procedure Removes Antibodies That Impede Gene Transfer

A research group supported in part by MDA has found that a blood-filtering strategy known as plasmapheresis looks promising as a way to help overcome one type of unwanted immune response to gene transfer therapy. Gene transfer therapy is the addition of therapeutic genes to treat disease, and it is often administered via transport vehicles made from viruses.

Louis Chicoine at Nationwide Children's Hospital and Ohio State University in Columbus, Ohio, and colleagues, reported the findings online Oct. 23, 2013, in the journal Molecular Therapy.

Study Seeks Parents, Guardians of Young Children with Neuromuscular Disease

The National Institute of Nursing Research, part of the National Institutes of Health (NIH) in Bethesda, Md., is seeking parents or guardians of children from birth through age 5 with a neuromuscular disease for a study to develop a questionnaire about motor function in young children.

MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects

In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.

“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”

CMD, LGMD: New Light Shed on Sugar-Coating Process

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.

DMD — Rachelle Crosbie-Watson, Ph.D.

Rachelle Crosbie-Watson, professor of neurology at the University of California, Los Angeles, was awarded an MDA research grant totaling $300,000 over a period of three years to study whether increasing levels of the sarcospan protein can be therapeutic for Duchenne muscular dystrophy (DMD) and other muscle diseases.

LGMD/Miyoshi Myopathy — Jyoti Jaiswal, Ph.D.

Jyoti Jaiswal, associate professor at George Washington University School of Medicine and Health Sciences and investigator at Children’s Research Institute in Washington, D.C., was awarded an MDA research grant totaling $300,000 over a period of three years to evaluate whether a new anti-inflammatory compound can reduce muscle damage in dysferlinopathies.

DMD: 'Permanent' Gene Repair Strategy Looks Good in Lab

Permanent repair of a faulty gene has long been a goal of researchers working to develop gene-based therapies. But many current gene modification strategies that have entered clinical trials have been based on temporary forms of gene correction — treatments that will need to be given frequently throughout a person's life.

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