Periodic Paralysis

CMS/LGMD/PP - Jocelyn Laporte, Ph.D.

Jocelyn Laporte, a team leader at the Institute of Genetics and Molecular and Cellular Biology in Strasbourg, France, was awarded an MDA research grant totaling $253,800 over three years  to develop drugs to treat certain types of congenital myasthenic syndromes (CMS), limb-girdle muscular dystrophy (LGMD) and periodic paralysis (PP) .

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.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

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.

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.

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.

Facts About Myopathies

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PP — Kurt Beam

MDA awarded a grant totaling $303,438 to Kurt Beam, professor in the department of physiology and biophysics at the University of Colorado School of Medicine in Denver, for research into a process called excitation-contraction coupling responsible for the contraction of muscle cells necessary for voluntary movement and breathing.

Periodic Paralysis — Stephen Cannon, M.D., Ph.D.

MDA has awarded a research grant totaling $404,274 over three years to Stephen Cannon, professor of neurology and associate dean for undergraduate medical education at the University of Texas Southwestern Medical Center in Dallas. The funds will help support Cannon’s research into attacks of paralysis in people with periodic paralysis (PP).

Periodic paralysis is a muscle disorder in which affected individuals have transient attacks of muscle weakness lasting hours to days.

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.

Dichlorphenamide Being Tested in Periodic Paralysis

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.