Myotonia Congenita (MC)

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.

Study of Pregnancy in Women with Myotonias

Investigators at the University of Rochester (N.Y.) are seeking participants for a questionnaire-based study of pregnancy and delivery in women with nondystrophic myotonias. No travel is required.

Nondystrophic myotonias included in this study are:

‘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.

Facts About Myopathies

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

MC — Mark Rich, M.D., Ph.D.

MDA has awarded a research grant totaling $53,358 to Mark Rich, an associate professor at Wright State University in Dayton, Ohio. The new funds will help support Rich’s study of the disease process in myotonia congenita (MC).

MC is an inherited muscle disease in which muscle is stiff because it contracts too much. The cause of stiffness is a mutation in a protein that is involved in electrical signaling in muscle.

Brian Groh

Location

Temecula, CA
2012
Full name: 
Brian Groh
Artist: 
Brian Groh
Disease: 
Becker Myotonia Congenita
Medium: 
Mixed Media

Benjamin Perez

Location

Phoenix, AZ
2012
Full name: 
Benjamin Perez
Artist: 
Benjamin Perez
Disease: 
Becker Myotonia Congenita
Medium: 
Pastels

MDA Awards $13.7 Million in Research Grants

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.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

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