Muscular Dystrophies

Eteplirsen Led to Dystrophin Production in US DMD Trial

Editor's note: This story was updated on April 27, 2012, and revised April 3, 2012.

MDA 2012 Conference Report: Genetics and Immunology Update

More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7.

The program emphasized:

Podcast Describes Results of LGMD2C Gene Therapy Trial

A March 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, presents the results of a phase 1 trial of gene therapy for gamma-sarcoglycan-deficientlimb-girdle muscular dystrophy (LGMD), also known as LGMD2C.

Podcast: Matthew Disney Discusses Drug Development for MMD

In type 1 myotonic dystrophy (MMD1, or DM1), expansions of DNA on chromosome 19 known as CTG repeats are converted to expansions in RNA called CUG repeats, which are toxic to nerve and muscles cells in a variety of ways.

Several MDA-supported research teams are targeting the toxic CUG repeats, with the goal of either blocking their interaction with other cellular substances or destroying them entirely.

Efficient System Developed for DMD Newborn Screening

Update 5/21/12: A podcast on this topic is now available; see Podcast Explores Newborn Screening for DMD.

'Gapmer Antisense' Targets MMD1 Defect for Destruction

Researchers at Baylor College of Medicine in Houston and Isis Pharmaceuticals in Carlsbad, Calif., have announced encouraging results for their antisense-based strategy in development for the treatment of type 1 myotonic muscular dystrophy (DM1, or MMD1).

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.

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