Muscular Dystrophies

Research Briefs: ALS, BMD, DMD, MMD, SMA, Muscle Regeneration

Amytrophic lateral sclerosis (ALS)

Not One But Two DNA Changes Are Needed to Cause FSHD

Facioscapulohumeral muscular dystrophy (FSHD) requires the presence of not one but two genetic changes, both on chromosome 4, before it causes its characteristic symptoms — weakness starting in the muscles of the face, shoulder blade area and upper arms, with possible progression to other parts of the body.

The new findings, announced online Aug. 19, 2010, in the journal Science, have immediate implications for diagnosis and prediction of FSHD, and possible long-term implications for its treatment.

MDA Awards More Than $14 Million in Research Grants

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

Research Briefs: ALS, DMD, MTM and SMA

Duchenne muscular dystrophy

Acceleron Pharma announced Aug. 4 that it has received fast track designation from the U.S. Food and Drug Administration (FDA) for its experimental compound ACE031 for the treatment of Duchenne muscular dystrophy (DMD). ACE031 is designed to interfere with the actions of myostatin, a protein that inhibits muscle growth.

Retiree with BMD is the Best at Beauty Pageants

Beauty pageants are not events that just happen by themselves, as Will Isgett can attest.

He’s one of 42 local executive directors of preliminary beauty pageants in South Carolina cities that culminate every year in the Miss South Carolina pageant. In 2010, the Miss South Carolina Board of Directors voted him the best of the bunch, for the pageant he directed in his hometown of Darlington.

Utah Researchers Seek CMD Families

Families affected by either of two forms of congenital muscular dystrophy (CMD), known as Ullrich CMD and Bethlem myopathy, are invited to help with an MDA-supported data collection project at the University of Utah in Salt Lake City. The project's investigators are seeking to correlate genetic and clinical (symptom-related) information to improve understanding of these diseases and begin to develop treatments.

About Ullrich CMD and Bethlem myopathy

Biker with LGMD Creates His Own Accessible Motorcycle

The “passenger” in Steve Williams’ motorcycle sidecar doesn’t say much, but if it could talk, it probably would have plenty of stories to tell.

 Steve Williams explains how he and his brother outfitted this Honda Nighthawk with a special wheelchair-carrying sidecar.

The passenger is Williams’ manual wheelchair.

DMD Gene Repair Strategy Takes a Big Step Forward

A new generation of molecules — peptide nucleic acid single-stranded oligodeoxynucleotides or PNA-ssODNs — can help cells permanently repair errors in the dystrophin gene, fixing the underlying cause of Duchenne muscular dystrophy (DMD), researchers report.

The research group, headed by MDA grantee, Carmen Bertoni, at the University of California Los Angeles (UCLA), published its findings online June 23, 2010, in the journal Human Molecular Genetics.

First US Exon-Skipping Trial Opens

Update (Nov. 5, 2012): Results announced in November 2012 showed the drug, now called drisapersen, reached blood levels approximately proportional to the injected dose at two of the three dosage levels tested and was not associated with serious adverse events. See Drisapersen Appears Safe in Non-Walking Boys With DMD.

The Rap on MD: Teen with CMD releases album

Eighteen-year-old Austin Puckett — Puck — is an up-and-coming hip-hop (rap) artist from Waynesville, Ohio, who uses his experiences with congenital muscular dystrophy as inspiration for his musical career.

Puckett has released two albums, “Million Dollar Dreams” and “Still Wishing,” on which he both wrote and performed the lyrics. ReFraze Studios in Dayton handled recording of both. The albums convey upbeat messages about the challenges in Puckett’s life — with none of the violence or vulgarities often associated with rap.

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