Muscular Dystrophies

MDA Genetic Counseling Webinar Answers Key Questions

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.

MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.

MMD1: Synthetic 'H' Molecules Lock Up Toxic Repeats

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.

DMD: Eteplirsen Allows Production of Functional Dystrophin

Shortened versions of the muscle protein dystrophin— produced by skipping a section of genetic instructions called exon 51— appear to be functional, says a new report from the United Kingdom.

Podcast: Stephen Tapscott Discusses Role of DUX4 in FSHD

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 Commits $12 Million to Neuromuscular Disease Research

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 Advisory Committees, and the grants took effect Feb. 1.

DUX4 Causes Muscle Mayhem in FSHD

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).

MDA Funds Development of Utrophin 'Magnet' for DMD/BMD

 

Nationwide Children's Podcast Probes Exon Skipping in DMD

A January 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, explores the potential of a strategy called exon skipping as a treatment for Duchenne muscular dystrophy (DMD).

MDA Funds Clinical Studies of Reformulated Drug for DMD

MDA has awarded $750,000 to Summit Corporation PLC for development and testing of SMT C1100, the company's experimental drug for treatment ofDuchenne muscular dystrophy (DMD). Summit is an Oxford, United Kingdom, drug discovery company.

The award was made through MDA's Venture Philanthropy (MVP) arm, a part of MDA's translational research program.

Podcast Explores Blocking NF-kappa B in DMD

A December 2011 podcast from Nationwide Children's Hospital in Columbus, Ohio, explores how an inhibitor of a protein called NF-kappa B has been beneficial in a mouse model of Duchenne muscular dystrophy (DMD) and is now being developed as a potential DMD treatment.

The podcast is part of a Nationwide Children's series called "This Month in Muscular Dystrophy."

Pages