Recent Quest Articles
Simply Stated: Oxidative Stress
Every 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 MoreSimply Stated: The Creatine Kinase Test
Almost 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.
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Who's Who on the Health Care Team?
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 MoreBut Girls Don't Get Duchenne, or Do They?
The reasoning is sound: A female has two X chromosomes to a male's one, so she has a built-in "backup" if anything should go wrong on either of her two Xs. She can be a "carrier" of an X-linked disease, because she can give a flawed X chromosome to her sons, who, having only one X, will likely develop an X-linked disorder.
Read MoreLife Without a Smile
Songs 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.
Read MoreScoliosis Surgery
"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 MoreThe Brain in Duchenne Muscular Dystrophy
By 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.
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