The rapid pace of research, unprecedented number of treatments in clinical trials and opportunities to share ideas across diseases made for an exciting 2013 MDA Scientific Conference
Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.
A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in...
The pace of research can seem unreasonably slow; here are a few reasons why
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...
Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification
Edison drugs target FA, mitochondrial diseases
The biggest problem at an ER may not be the one you go in with, but the one you encounter there
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.
Some consensus, much controversy about diet in three metabolic diseases
Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition.
The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein...
Valproic acid improves strength in SMA study
The drug valproate (valproic acid), currently used for seizures, bipolar disorder and migraine headaches, increased ob-jective and subjective strength assessments in six adults with type 3 or 4 spinal muscular atrophy (SMA).
Laboratory experiments have suggested that valproate can increase the level of full-length SMN protein molecules, needed but...
When Michael Marino, 47, of Selden, N.Y., was a child, his parents thought he was lazy and sent him to a nautical military school to straighten him out. It didn’t.
He had his first muscle cramps at age 9 or 10, from the extreme sit-up regimen, and couldn’t straighten up for two days.
“I thought the pain meant I was building muscle, but now I know I was damaging it.”