Other Myopathies

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

MTM Mice Respond to Modified Myotubularin Protein Injections

Update (Jan. 10, 2013):This story has been updated with additional information about MDA funding of this and related research projects.

Second Mouse Model of Periodic Paralysis Developed

Scientists supported in part by MDA have developed a second type of research mouse with a disorder mimicking hypokalemic periodic paralysis, a genetic disorder in which recurrent attacks of weakness or paralysis occur in association with low potassium levels in the bloodstream. Like the majority of humans with this disorder, the mice have a mutation in the gene for a muscle-fiber calcium channel, a key player for the initiation of muscle contraction.

Competition Solves Genetic Mystery for Boy with CNM

Update (Dec. 4, 2012):This story was updated to reflect that the 13 previously identified genes that were tested as potentially associated with Adam Foye's disease were genes for various disorders that cause muscle weakness, not just centronuclear myopathy. Including titin, there are five genes now known to be associated with CNM.

MDA Commits $10.7 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

Facts About Myopathies

Last Updated: 
Tue, 12/01/2009 - 15:55

Myopathies — Alan Beggs, Ph.D.

Alan Beggs, a professor of pediatrics at Harvard Medical School and director of the Manton Center for Orphan Disease Research at Children's Hospital Boston, has been awarded an MDA grant totaling $396,990 over three years. The funds will help support Beggs' research on the molecular genetics of congenital myopathies.

Study of Progression in CNM/MTM, CCD, Multiminicore Disease Is Open

Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to:

MDA Commits $12 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

Periodic Paralysis Research Mouse Developed

MDA grantee Stephen Cannon at the University of Texas Southwestern Medical Center in Dallas coordinated a study team that has developed a mouse model of one type of hypokalemic periodic paralysis, publishing the development in the Oct. 3, 2011, issue of the Journal of Clinical Investigation.

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