Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less costly, a study reports. The new technique was also able to detect one copy…
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SMA Europe will host its 1st International Clinical Care Symposium on SMA and focus on the biological causes of spinal muscular atrophy (SMA) and how to prevent and manage the symptoms that may lead to life-threatening emergencies. Titled, “Medical Emergencies in SMA: pathophysiology, prevention, and response,” the…
One of my favorite pastimes is cruising the sidewalks of our downtown area all by myself. I have a wheelchair-accessible van, but I need my friends to drive it, which means I rarely go anywhere in public alone. There have been seasons in my adult life, though, when I’ve lived…
A study found that people with spinal muscular atrophy (SMA) have metabolic alterations due to impairments in how their bodies use fatty acids for energy. The results suggested a carbohydrate-rich diet may help normalize metabolism in SMA patients. The study, “Alterations of Fat and Ketone Body Metabolism…
Did you know dogs can be diagnosed with SMA? I did. As a child, I used to stare up at a news clipping of research about the condition in canines, which was pinned to the wall in the office of the Muscular Dystrophy Association (Singapore) (MDAS). My…
While you might recognize Val Kilmer from iconic films like “Top Gun” or “Batman Forever,” the first of his movies I saw was probably one of my mom’s favorites, “The Saint.” It’s the story of an orphaned con artist who, stripped of his own identity in…
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