SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

Mutations in the DYNC1H1 gene cause a rare form of spinal muscular atrophy; plastin 3 contributes to movement problems in SMN-related SMA

Decision Making About PGD Is Complex, Study Finds

Decision Making About PGD Is Complex, Study Finds

A study of 22 couples considering preimplantation genetic diagnosis (PGD) has revealed a four-phase decision-making process

2012 AAN Meeting: Limb-Girdle MD, Distal MD Briefs

2012 AAN Meeting: Limb-Girdle MD, Distal MD Briefs

Findings about ANO5 mutations, DNAJB6 mutations and dysferlin gene transfer were presented

'Turning Off the Switch' May Provide New FSHD Strategy

'Turning Off the Switch' May Provide New FSHD Strategy

Researchers have identified a molecular switch that appears to lead to harmful gene activation in facioscapulohumeral MD

Research Briefs: New Tools for CMT

Research Briefs: New Tools for CMT

Recent developments in Charcot-Marie-Tooth disease include CMT2E research mice, CMT1A stem cells, progress toward CMT1A gene therapy and a new pediatric disability scale

MDA Funds Development of Gentler Glucocorticoid for DMD

MDA Funds Development of Gentler Glucocorticoid for DMD

MDA has awarded $1.5 million to ReveraGen BioPharma to develop a drug with the benefits of prednisone, but without the side effects, for Duchenne MD

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A challenging and multifaceted disease

posted on April 9, 2012 - 12:05pm
As far back as Carla Licon can remember, her mother had difficulty opening jars and walking long distances. Licon’s mother wore ankle braces, and she also had an unusual symptom known as "myotonia," the inability to relax muscles, such as a clenched hand, at will. Licon, who is 31 and lives in Victoria, Texas, thinks these symptoms started when her mother was in her 20s. Later, her mother’s...

Getting on the level

posted on April 9, 2012 - 12:04pm
Whether facing a 2-inch-high curb or a 3-foot-tall porch, the results for a person in a wheelchair can be exactly the same: no passage. The way around both these barriers is, of course, a wheelchair ramp, though they will be decidedly different. The first might be a portable, foldable aluminum device, while the second might be a large, permanent structure made of concrete or galvanized steel....

Iconoclast and author Mike Murphy wants a revolution in the way characters with disabilities are portrayed

posted on April 9, 2012 - 12:03pm
I love movies. Always have, always will. I pumped my fist in the air (metaphorically) when Captain America beat the snot out of Red Skull, held my breath (also, metaphorically) while Frodo and Sam scaled Mount Doom, and teared up when the starship Enterprise first appeared in the latest Star Trek movie.

Students hop to help fight muscle disease, while learning core values of awareness, acceptance and assistance

posted on April 9, 2012 - 12:02pm
Hopping isn’t just for bunnies. Each year thousands of preschools, day care centers and elementary schools across the country are taken over by swarms of hopping students, all doing their part to help children with neuromuscular disease.
posted on April 9, 2012 - 12:01pm
Carrot 3 car seat Convaid offers a restraint system made specifically for children with special needs. The Carrot 3, a top-selling car seat from Europe, is designed to promote good positioning and safety. It has built-in growth functions (plus modular extensions and accessories) that accommodate children from ages 3 to 15, between 30 and 108 pounds. Conforming to the natural contours of the...

A big sports fan with a bigger heart, this 11-year-old is ready to speak out for MDA

posted on April 9, 2012 - 12:00pm
Bryson Foster dreams big. No, make that B-I-G. But those with big hearts usually do. "Even if you dream small, those small things can turn into big things in the end," says Bryson, with wisdom beyond his 11 years. In true sports vernacular, he adds: "Go big or go home." So, Bryson continues to dream about one day being the starting quarterback for his beloved Cincinnati Bengals, or a professional...
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