posted on September 1, 2007 - 10:07am
When Patrick and Sarah Foye of Pine Brook, N.J., had their baby boy, Adam, in 2001, there was little reason to believe at first that anything was wrong. "Adam had a normal birth," Sarah says, but things didn't go as well as expected in the months that followed.
Patrick is a physician specializing in rehabilitation, and Sarah is an occupational therapist, so they were quick to note that something...
Different mutations in a gene called ANO5 cause type 2L LGMD (LGMD2L) and type 3 Miyoshi myopathy
posted on February 18, 2010 - 1:44pm
An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause type 2L limb-girdle muscular dystrophy (LGMD2L) and type 3 Miyoshi myopathy.
posted on March 31, 2010 - 1:54pm
“In my opinion, I’ve progressed a lot,” says 41-year-old Sandy Doak, who saw little progression of her central core disease until about five years ago, when she was in her mid-30s. “I didn’t have muscle spasms years ago, and I didn’t have these aches that I have. I’m a very active person, and I’ve been experiencing fatigue that I’ve never experienced.”
posted on March 31, 2010 - 2:26pm
In 1960, the medical journal The Lancet published a sobering report of a 21-year-old student whose broken leg required surgical repair but who was less concerned about his leg than the risk of general anesthesia. He told his doctor that, since 1922, 10 of his relatives had died as a direct result of inhaled anesthesia.
posted on July 1, 2010 - 5:30pm
Art Hafey knew, from the way his arm and leg muscles were knotting up uncontrollably, that he’d never be able to go the full 10 rounds with hard-punching Vicente “Yambito” Blanco.
So Hafey did what he had to, in the characteristic bone-crushing fashion that had driven him to the top of professional boxing’s Featherweight Division: He knocked out his opponent in the fifth.
That was 1975 in...
Thirty-eight new grants support research in ALS, central core disease, spinal muscular atrophy, muscular dystrophy, and other diseases in MDA's program
posted on August 17, 2010 - 6:39pm
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...
Researchers seek adults with nonspecific diagnoses of muscular dystrophy or myopathy, who might have late-onset Pompe disease
posted on August 27, 2010 - 2:30pm
A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD), or an unclassified myopathy (muscle disease) who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or
When their baby was born with overwhelming special needs, these parents became experts in nemaline myopathy
posted on January 31, 2000 - 5:00pm
Like many first-time parents, Doug and Tina Kurtz of Dayton, Ohio, immersed themselves in books on parenting in preparation for their new arrival. But when their son, Brent, was born with a rare muscle disorder, the Kurtzes found themselves abruptly plunged into a world where none of their parenting books could help.
News briefs about research in Charcot-Marie-Tooth disease, hereditary inclusion-body myositis, limb-girdle muscular dystrophy, myotubular/centronuclear myopathies and Pompe disease
posted on March 31, 2011 - 10:20am
Charcot-Marie-Tooth disease
A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment...
The conference, Nov. 4-6 in Orlando, Fla., will update families on research and address daily life issues
posted on August 5, 2011 - 3:33pm
The 2011 Periodic Paralysis Association Conference will be held Nov. 4-6 in Orlando, Fla., and is geared toward people with periodic paralysis (PP), their families, physicians and friends.
This is not an MDA meeting, but several current and former MDA research grantees will be speaking. Among them are:
