myotonic muscular dystrophy

Adults with MMD1 and minor cardiac conduction defects benefit from invasive testing and possible pacemaker insertion

posted on April 3, 2012 - 6:00am
New evidence suggests that relatively aggressive management of seemingly minor cardiac conduction defects in adults with type 1 myotonic dystrophy (MMD1, or DM1) can prolong survival.

Scientists have developed synthetic compounds that reduce the harmful effects of MMD1-associated expansions of RNA in cellular models of the disease

posted on February 23, 2012 - 3:45pm
Editor's note 3/15/12: This story was updated to reflect the availability of a podcast with Matthew Disney. Small, laboratory-designed molecules can make a big difference in cells carrying the genetic defect that causes type 1 myotonic dystrophy (DM1, or MMD1), researchers have found.
posted on October 1, 2010 - 5:00pm
QUEST Vol. 17, No. 4
From where I sit, in the sucessor to the Blue Chariot — a snazzy power chair with hazard lights — I pose this question: Should a 66-year-old man with limited use of his arms, hands, fingers and neck due to myotonic muscular dystrophy attempt to write a novel? Well, the answer to this poser is simple — NEVER! Like the kids say, “Duh!” Unless you are a complete masochist or on the cutting edge of...

Treatment prospects “bright”

posted on July 1, 2009 - 4:09pm
Researchers at the University of Rochester (N.Y.) Wellstone Muscular Dystrophy Cooperative Research Center have identified a compound that has the potential to be developed into a treatment for type 1 myotonic dystrophy (MMD1, or DM1). The compound, dubbed CAG25, is an "antisense oligonucleotide," a type of construct that's been used to block disease-causing genetic instructions in laboratory...

Family histories help solve medical mysteries

posted on February 1, 2002 - 12:02pm
The year was 1992, and neurologist John Day had recently moved from the University of California at San Francisco to the University of Minnesota at Minneapolis, where he was to assume the directorship of the MDA clinic. (Day still holds this position, at what is now the Fairview-University Medical Center. He's also an associate professor of neurology at the university.) Earlier that year, a...