congenital myasthenic syndrome

An MDA-supported open-label trial found the asthma drug benefited 17 of 18 people with either of two forms of congenital myasthenic syndrome

posted on November 9, 2011 - 2:56pm
Researchers have found that the drug albuterol appears to be beneficial in two forms of congenital myasthenic syndrome (CMS) — CMS related to mutations in the collagen Q (colQ) gene and CMS related to mutations in the DOK7 gene.

Once incorrectly diagnosed and improperly treated, they're now among the most treatable neuromuscular disorders

posted on June 1, 2001 - 12:05pm
When Phillip Martin was a baby, most people — even doctors — didn't notice anything unusual about him, except perhaps that he was a little quiet compared to other babies. But as they watched him grow, Richard and Daina Martin of Kelseyville, Calif., began to sense their son might have a physical disability. Phillip couldn't hold his head up by himself until he was nearly 6 months old, Daina...