Recent Quest Articles
Coping with Neuromuscular Disease in Infants
It's the kind of thing you think can never happen to you — until it does. Your baby is born with a life-threatening condition that fascinates but puzzles pediatric specialists, while it terrifies you and turns your family's life inside out.Often such surprises come without warning. There's no family history of any such disorder, and prenatal tests have revealed no serious problems.
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Profile: Hoping for a Miracle, but Taking What Comes (Adrianne Gayman)
Adrianne Gayman was born to Kelly and Matt Gayman of Rich Hill, Mo., on Feb. 16, 2000. Doctors soon diagnosed type 1 spinal muscular atrophy and suggested that the young couple not go to great lengths to keep her alive. The Gaymans instead had physicians put in a gastrostomy tube for Adrianne's feedings and prescribe BiPAP assisted ventilation for her.
Read MoreSimply 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.
Read MoreAdvances in Inclusion-Body Myositis
On winter mornings in icy Prescott, Wis., Ed Bankston gets up early, and, as he has done for many years, drives to his office in St. Paul, Minn. Bankston, 55, has been an attorney with the St. Paul District of the U.S. Army Corps of Engineers since 1988, and he now heads the district's legal department.
Read MoreSorting 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.
Read MoreSimply 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.
Read MoreKeeping 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.
Read MoreSimply 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.
Read MoreSimply 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.
Read MoreSimply 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.
Read MoreMDA Resource Center: We’re Here For You
Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.
