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An 11½-minute interview with researcher Stephen Tapscott explores recent findings about the molecular basis of facioscapulohumeral MD

posted on February 2, 2012 - 4:55pm
A protein called DUX4, inappropriately produced ("expressed") in skeletal muscle fibers, is emerging as a major factor in facioscapulohumeral muscular dystrophy (FSHD). In FSHD-affected muscles, full-length DUX4 protein disrupts numerous biochemical pathways that normally would help muscle cells survive, mature and develop specialized roles.

MDA has awarded 38 grants totaling more than $12 million to support research into general muscle health and more than 15 neuromuscular diseases in its program

posted on February 1, 2012 - 10:00am
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...

The federal government’s airport security agency is offering a toll-free help line to assist commercial air travelers with disabilities and medical conditions

posted on January 27, 2012 - 6:00am
The U.S. Transportation Security Administration (TSA) recently launched a new program designed to help people with disabilities and medical conditions fly on commercial airlines with a minimum of hassle. TSA is the arm of the U.S. Department of Homeland Security, and is best known for its uniformed officers who staff security checkpoints at airports and inspect travelers, their baggage and...

Jacobus is inviting 30 selected individuals with Lambert-Eaton myasthenic syndrome to participate in a placebo-controlled trial of 3,4-DAP

posted on January 25, 2012 - 6:00am
Jacobus Pharmaceutical of Princeton, N.J., has opened a randomized, placebo-controlled study of the drug 3,4-diaminopyridine (3,4-DAP) in 30 adults with Lambert-Eaton myasthenic syndrome (LEMS) who have been receiving the drug through its expanded access program. Enrollment is by invitation only.

New research explains probable ways in which DUX4 protein, if made at the wrong time and in the wrong place, leads to FSH dystrophy

posted on January 19, 2012 - 5:09pm
Editor's note 2/2/12: This story was updated to reflect the availability of a podcast in which Stephen Tapscott is interviewed. A little over a year ago, a team of researchers announced a crucial new finding that helped explain the molecular basis of facioscapulohumeral muscular dystrophy (FSHD).

If passed into law, the ABLE Act would create special savings accounts to be used for disability-related expenses without threatening other government benefits

posted on January 17, 2012 - 2:42pm

Four children not making any acid maltase enzyme tolerated enzyme replacement therapy when also treated with immunosuppressants

posted on January 16, 2012 - 6:00am
Editor's note 2/2/12: This story was updated to reflect the award of a  new MDA grant to Eric Sjoberg at Amicus Therapeutics. Drugs that suppress the immune system can successfully prevent or reverse rejection of enzyme replacement therapy in Pompe disease (acid maltase deficiency), a new study has shown.
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