Education

But 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.

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.

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.

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.

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.

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.

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.

Sorting Out Speech Services

"People always think speech therapy is related to speech and not to assistive technology or swallowing disorders," says Sharon Veis, a speech-language pathologist at the Voice, Speech and Language Service and Swallowing Center of Northwestern University in Chicago.Veis says she doesn't mind being called a "speech therapist," but she and other speech professionals prefer the term used by the American Speech-Language-Hearing Association, which is "speech-language pathologist," or simply SLP.

Simply Stated: Elevated Enzymes

Elevated enzymes are a frequently encountered problem in general medical practice, but their meaning often isn't so simple to discern. When they're found with a neuromuscular disease, the situation can get complicated.There are thousands of enzymes in the cells in our bodies, where they act as catalysts for all the chemical reactions that take place in these cells. Without them, these reactions either wouldn't occur or would be too slow for the cells' needs.

When Form Meets Function: Exploring Surgery to Restore Muscle Power in FSH Dystrophy

The trouble started for Claire Walker when she was in kindergarten, when her physical education teacher noticed that she couldn't do sit-ups like the other children and that her back seemed "lopsided." Claire's parents took her from their home in Louisiana to see Yadollah Harati, an MDA-affiliated neuromuscular disease specialist at Baylor College of Medicine in Houston.