Recent Quest Articles
When Neuromuscular Disease Affects the Brain
If you’re the parent of a child with a neuromuscular disease, you’ve probably heard something about learning disabilities, mental retardation or emotional problems that accompany some of the muscular dystrophies and related diseases.But this information is often expressed in vague, general terms, leaving a parent wondering what specifically has gone wrong, whether the child’s school problem is directly related to his neuromuscular disease or not, and — perhaps most important — what can be done to help.
Read MoreShy Kids with Disabilities: To Push or Not to Push?
James — a hypothetical boy — is 14 and has Duchenne muscular dystrophy (DMD). James has always been a little reserved around strangers, but over the past several years — especially since he lost the ability to feed himself — he has become increasingly resistant about going out in public, to the point that his mother practically has to beg him to go to a movie.
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Understanding Heel Cord Surgery
Tom Baker, 14, is the second child of Harold and JoAnn Baker of Dover, Ohio. When he was a small boy, the family noticed that he walked "funny," certainly not like their first child, Jessica, now 18, or their youngest, Lisa, 11.Still, doctors weren't terribly concerned until the Bakers took Tom for his kindergarten physical. "The doctor noticed that he exhibited the Gowers' sign," JoAnn recalls, referring to the way children with leg muscle weakness use their arms to brace themselves when getting up from the floor.
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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.
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