Muscular Dystrophies

Nationwide Children's Podcast Explores Immunity in DMD

A January 2011 podcast from Nationwide Children's Hospital in Columbus, Ohio, probes a subject that's been on the minds of many researchers, doctors and families: autoimmunity (self-immunity) in Duchenne muscular dystrophy (DMD).

Gene Variant May Indicate Severity of DMD

A team of scientists working in the United States and Italy has uncovered a variant in the gene for a protein called osteopontin that appears to reliably indicate disease severity in most (but likely not all) cases of Duchenne muscular dystrophy (DMD).

The variant is apparently a genetic modifier of DMD, a disease in which the underlying cause is a mutation in the gene for the dystrophin protein and the resulting lack of dystrophin in the muscles.

‘CMD Standard of Care’ Guidelines Issued

Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines.

A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their onset at birth or in early infancy.

Research Briefs: DMD, BMD, MMD, SMA

Editor's note 2/7/11: A link to the Tivorsan Pharmaceuticals website has been added.

Duchenne and Becker muscular dystrophies

DMD Progression Studied in Very Young and Nonwalkers

Parents’ Perceptions Sought of DMD/BMD Ataluren Trials

If your child participated in a phase 2 clinical trial of ataluren (PTC124) for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) conducted by PTC Therapeutics, you're invited to take part in a National Institutes of Health (NIH) study about the experience.

Biobank Collecting Blood Samples for Neuromuscular Disease Research

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Large-Scale Trial of Idebenone in DMD is Now Open

A large-scale, phase 3 trial of idebenone (Catena) in Duchenne muscular dystrophy (DMD) is now open at one U.S. site and several sites in Europe, under the auspices of Santhera Pharmaceuticals.

Longer Chromosome Tips Mean Better Muscle Repair in DMD mice

Dystrophin-deficient mice (known as mdx mice) have been used in experiments as a model of human Duchenne muscular dystrophy (DMD) for decades. However, scientists have long noted that mdx mice, even though they develop a disease that mimics some aspects of human DMD, fare much better than human DMD patients. Mdx mouse muscles don't deteriorate as severely, and their ability to move and maintain heart function is far better than that of humans with the disease.

Research Briefs: DMD, BMD, CMD, SMA

Duchenne and Becker muscular dystrophies

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