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Simply Stated: Germ Line Mosaicism

One area that causes frequent misunderstanding is the phenomenon of germ line mosaicism.Here's a typical question (actually a composite of several queries to "Ask the Experts"): Five years ago, I gave birth to a child with Duchenne muscular dystrophy (DMD). At that time, they tested my blood cell DNA and said I didn't have the deletion in my dystrophin genes that causes DMD. My son, Danny, does have a deletion.

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Keeping Your Focus: Eye Care

When people think about neuromuscular disorders, eye problems usually aren't the first thing that comes to mind. That makes sense, because most eye problems in neuromuscular disease are, thankfully, not too severe, treatable with therapy for the underlying disorder, or correctable with special lenses or surgery. But in some disorders, problems can persist, and they range from nuisances to major impediments to quality living.

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Simply Stated: Electromyography and Nerve Conduction Velocities

Diagnosis 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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Simply Stated: Muscle Biopsies

A 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.

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Simply Stated: Stiffness, Cramps and Twitching

Neuromuscular diseases can cause a variety of symptoms other than muscle weakness. Some people may feel their muscles are stiff or don't respond quickly; others might complain of cramps or twitches; while still others get tired quickly during exercise.Not all of these symptoms are painful, but some can be inconvenient or annoying. Learning the medical names and natures of these symptoms can lead to better discourse between you and your doctor, and sometimes better management of symptoms.

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Physical Therapy: Flexibility, Fitness and Fun

Say "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.

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Coping with Anesthesia

Wendy 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.

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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.

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Simply 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.

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