Quest Magazine

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.

Ex-Con with SMA Now Mentors Children of Inmates

For eight long years, Terrence Stevens — who goes by the nickname "T-Wheels" — had the dubious distinction of being the only inmate in the New York state prison system with “muscular dystrophy.”

Stevens actually has spinal muscular atrophy (SMA) type 3, but he says no one in prison knew or cared what his true diagnosis was.

Conditions were horrible for inmates with disabilities, says Stevens, 43, who is nonambulatory and has only limited use of his hands.

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

ALS Research Briefs

Spirulina supplement seems to help ALS mice

A study of 15 mice with a genetic mutation that causes an ALS-like disease suggests that the nutritional supplement spirulina may have some protective effects on motor neurons, the main cells that degenerate in ALS.

Study Seeks to Learn More About Workers with Disabilities

If you’re a person with a disability who also manages to hold down a job, researchers are interested in finding out how you do it.

A new study is looking for people who work outside the home at least 20 hours a week and who also have significant mobility impairments, such as difficulty moving their legs and/or arms.

DMD Progression Studied in Very Young and Nonwalkers

CCD Research Mouse Sheds New Light on Human Disease

Since 1993 — when mutations in the RYR1 gene were first linked to central core disease (CCD)— researchers have been trying to figure out exactly how these mutations cause the disease and what can be done to combat their deleterious effects.

Now, investigators in the United States, Canada and Germany have added an important piece to the CCD puzzle, through careful studies of mice with a particular mutation in the RYR1 gene that commonly causes human CCD.

VCP Gene Implicated in Familial ALS, IBM

A multinational study group, using cutting-edge "exome sequencing" technology, has uncovered five mutations in the valosin-containing protein (VCP) gene and implicated them as molecular causes of some familial forms of ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

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