Periodic Paralysis

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

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.

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.

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.

A multicenter study of the drug dichlorphenamide in 140 adults with hyperkalemic or hypokalemic periodic paralysis is open at sites in California, Kansas, Massachusetts, Minnesota, Missouri, New York, Ohio and Texas, as well as in France (not yet recruiting), Italy and the United Kingdom. 

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

The 2011 Periodic Paralysis Association Conference will be held Nov. 4-6 in Orlando, Fla., and is geared toward people with periodic paralysis (PP), their families, physicians and friends.

This is not an MDA meeting, but several current and former MDA research grantees will be speaking. Among them are: