Emery-Dreifuss Muscular Dystrophy - EDMD

Former National Goodwill Ambassador receives MDA's top award

posted on November 1, 2007 - 4:16pm
QUEST Vol. 14, No. 6
As a 6-year-old in the first grade, Mike Neufeldt used an orange Pony scooter to keep up with classmates on the playground and in gym class. After attending an MDA Harley-Davidson event, where one of the drivers gave him some decals, Neufeldt proudly plastered the company’s bar and shield on the back of his ride, and when kids inevitably asked if Harley-Davidson had made his scooter, Neufeldt...

MMD, FSHD, OPMD, and some forms of EDMD and ALS, might benefit from new strategy

posted on April 18, 2009 - 9:00pm
A new gene therapy approach to "silencing" disease-causing genetic information has been developed by researchers at Rutgers University in Piscataway, N.J., and Integrated DNA Technologies in Coralville, Ia.

The WNT7a protein increases proliferation of muscle repair cells, a finding that could have implications for MD treatment

posted on June 15, 2009 - 10:12am
In experiments in mice, Michael Rudnicki, an MDA grantee at the Sprott Center for Stem Cell Research at Ottawa Hospital Research Institute (OHRI), and colleagues, found the WNT7a protein stimulates muscle repair by causing proliferation (an increase in number) of "satellite stem cells." They say the protein probably operates similarly in humans. The findings were published June 5, 2009, in the...
posted on May 1, 2005 - 9:46am
Jason Adamo’s life isn’t markedly different from that of any other teenager. The 17-year-old high school junior has a part-time job as a cook at a restaurant near his home in Port Charlotte, Fla., and enjoys flying radio-controlled model helicopters in his spare time. But had it not been for the alertness and persistence of his mother, Katherine, an intensive care nurse, things could have taken a...

The diagnostic process in neuromuscular disease involves following many clues and rounding up the usual -- and not so usual -- suspects

posted on May 1, 2003 - 9:39am
*Note: In the print edition of Quest, this article was titled "Rounding Up the Usual -- and Not So Usual -- Suspects." The scene is familiar to everyone who watches crime dramas. The safe has been opened, and the hotel guests' jewelry and other valuables are missing. What happened, and when, and who's responsible?

‘The wheelchair comics are coming,’ warns Michael O’Connell (Emery-Dreifuss muscular dystrophy), who loves to leave ’em laughing

posted on May 28, 2010 - 2:54pm
 What started out as an item on O'Connell's bucket list is now an almost nightly occurance: performing comedy on stage. “So this woman comes up and tries to give me a dollar. I wanted to say, ‘Hey! Just because I’m in a wheelchair doesn’t mean I’m homeless!’”

Scientists have identified a protein cluster that patches damaged muscle-fiber membranes in muscular dystrophy.

posted on June 18, 2009 - 5:00pm
Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies. The Muscle-Fiber Membrane

Thirty-eight new grants support research in ALS, central core disease, spinal muscular atrophy, muscular dystrophy, and other diseases in MDA's program   

posted on August 17, 2010 - 6:39pm
MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases.  MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the...

Researchers seek adults with nonspecific diagnoses of muscular dystrophy or myopathy, who might have late-onset Pompe disease

posted on August 27, 2010 - 2:30pm
A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or...

'Best practices' for treating various neuromuscular diseases are described in this third and final report on MDA's 2012 Clinical Conference

posted on April 19, 2012 - 6:00am
Several experts presented their views of "best practices" for care of people with neuromuscular disorders at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7. Many questions remain about optimal care in these disorders, but it's clear that attention to heart and respiratory function are of paramount importance. This article looks at: