MDA families face daily challenges that often make walking, playing, running, getting dressed, hugging and talking difficult — sometimes seemingly impossible. But these courageous families are defying their limits every day and inspiring a nation to do the same.For example, Davion Bartlett was diagnosed with Duchenne muscular dystrophy when he was 4 years old. He quickly learned as a young child that his disease would never define him or hold him back. Read More
"I've had a lot of different surgeries for a lot of different problems," says Todd Palkowski of Franklin, Wis. "Not all of them have been successful. But this one works."He's talking about the spinal fusion he underwent almost 20 years ago to correct severe scoliosis. Palkowski, who has spinal muscular atrophy, was 13 at the time. Like many of those with SMA and nearly all of those with Duchenne muscular dystrophy, his spinal muscles had become too weak to hold him erect. The surgery, which involved the placement of a pair of metal rods down the length of his spine and the fusion of his vertebrae, has kept him upright and properly seated in his wheelchair. It gave Palkowski the mobility to work full-time as a recreation therapist.
Read MoreBy the early 1990s, researchers began to see more than they had expected. The dystrophin gene wasn't just a muscle protein gene. There was also a brain form of dystrophin, made from the same gene, but in a slightly different way.Not surprisingly, scientists began to speculate that, if this brain protein were also flawed in Duchenne muscular dystrophy (DMD), it might account for the cognitive problems seen in the disease. And, if different people had different flaws in the same gene, it might account for some of the variation seen with these problems.
Read MoreSongs tell us we're never fully dressed without a smile and exhort us to pack up our troubles in our old kit bags and — smile, smile, smile. Smiling mouths tell us to buy everything from toothpaste and shampoo to diamonds and automobiles, and stylized "smiley faces" peer at us from posters and stickers.
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Time was when you didn't have to guess who was who in a hospital. Doctors were mostly men, and they wore white suits and carried stethoscopes in their pockets. Nurses were women, and they wore starched, white uniforms and caps. Then there were volunteers, who wore candy-striped outfits or pink smocks, and a few clerks in street clothes.
Read MoreAlmost everyone with a neuromuscular disorder has had, or will have, a creatine kinase test. But what exactly is creatine kinase (CK), and why are its levels measured in neuromuscular diseases?CK, also known as phosphocreatine kinase, or CPK, is a type of protein called an enzyme. It catalyzes, or "encourages," a biochemical reaction to occur. The normal function of CK in our cells is to add a phosphate group to creatine, turning it into the high-energy molecule phosphocreatine. Phosphocreatine is burned as a quick source of energy by our cells.
Read MoreEvery day we're bombarded with information about foods that contain "antioxidants" and supplements that block "free radicals." But where do free radicals come from and why should we block them? Is there a connection between free radicals and neuromuscular disease?The oxygen we breathe is needed by our cells to create energy. In fact, the very work "oxygen" has come to mean something that is vital for existence. But this life-giving gas also has a dark side.
Read MoreWendy Hinton says she "still gets goosebumps" when she thinks about the morning of Oct. 25, 1989.She and her husband, Doug, had brought their 2-year-old son, Shayne, to St. Anthony's Central Hospital in Denver to have a routine procedure that doctors thought might help the child's frequent ear infections and difficulty breathing through his nose.
Read MoreSay "physical therapy" and most people think of World War II movies with wounded heroes struggling with weights and pulleys, athletes nursing injuries in whirlpool baths, and heart attack survivors sweating on treadmills.Say "physical therapy" and "muscular dystrophy" in the same sentence and you may get the same uncertainty from anxious parents that you do from skeptical insurance company representatives.
Read MoreA muscle biopsy is a surgical procedure in which one or more small pieces of muscle tissue are removed for further microscopic or biochemical examination. The procedure, often used in the diagnosis of a neuromuscular disorder, is considered "minor" surgery and is usually performed under local anesthetic.
Read MoreDiagnosis of neuromuscular disease hinges on a doctor's ability to identify a specific defect of neuromuscular function. Sometimes, a doctor can infer this functional defect — and the disease associated with it — by giving a physical exam, doing a blood test or looking at the anatomy of nerves and muscles.
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