Education
In Focus: Periodic Paralysis
This “In Focus” report is part of a series of MDA comprehensive reports about the latest in neuromuscular disease research and management.This report focuses on the periodic paralyses, a group of disorders that result from malfunctions in so-called ion channels, microscopic tunnels that make possible high-speed movement of electrically charged particles across barriers inside cells and between cells and their surroundings.
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In Focus: Spinal Muscular Atrophy (SMA)
This report provides an overview of spinal muscular atrophy (SMA), a disease in which a loss of nerve cells in the spinal cord causes weakness or paralysis of variable severity.Chromosome-5-linked SMA, by far the most common form of the disease, lends itself well to certain therapeutic interventions because of its unusual genetics. In contrast to the situation in many other genetic diseases, everyone with this type of SMA makes at least a small amount of the necessary protein in which they’re deficient, called SMN. That makes it easier to devise strategies to increase SMN levels further, and easier for the immune system to tolerate the increase than in many other disorders.
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New Directions in Autoimmune Disorders
What do inflammatory muscle diseases (myositis), myasthenia gravis, Lambert-Eaton syndrome, and dozens of other disorders like lupus and rheumatoid arthritis, have in common?In all these and more, the body’s immune system, which normally detects and destroys invading microbes that cause illness, somehow has taken a wrong turn, and is attacking its own tissues, causing what’s known as an “autoimmune” (self-immune) disease.
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How to Get Your Child's School to Provide Assistive Technology or Help with Learning Disabilities
State and federal law requires school districts to provide assistive technology (AT) and specialized instruction for learning disabilities (LD) to qualifying students.But parents may have a difficult time convincing their school districts that these services will benefit their child.Parents stand a better chance of getting special services if they know what to ask for, why they’re asking for it and how to ask for it.
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What Not to Eat
Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition.The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein known as myoglobin into the blood and threatening the survival of the boy’s kidneys, if not of the child himself.
Read MoreBuilding the IEP Puzzle
Whether it’s your first Individualized Educational Plan or your 10th, it never hurts to add some valuable tips to your IEP toolkit. Here are words of advice from parents and experts.“You can do a lot to improve the quality of your child’s life and education, and there’s no higher calling,” says Tina Riley of Jay, Maine, whose son, Bryan, 6, has Duchenne muscular dystrophy (DMD). “Do your homework, and know as much as you can about your child’s disease and special education laws.”
Read MoreSurgery Sometimes, Bracing Often, Caution Always
Diane Lareau, 35, of Linwood, Mass., always knew there was something wrong, but her mother kept telling her she was just pigeon-toed and that putting her shoes on the wrong feet would fix the problem.It didn’t, and by her late teens, she remembers, her toes were “all bent and just a mess. It looked like a bird’s claw on both feet. I was actually almost walking on the outsides of my ankles.”
Read MoreMcArdle’s Disease: The Right Diagnosis Can Lighten the Load
When Michael Marino, 47, of Selden, N.Y., was a child, his parents thought he was lazy and sent him to a nautical military school to straighten him out. It didn’t.He had his first muscle cramps at age 9 or 10, from the extreme sit-up regimen, and couldn’t straighten up for two days.“I thought the pain meant I was building muscle, but now I know I was damaging it.”
Read MoreGetting a Correct Diagnosis in Neuromuscular Disease
*Note: In the print edition of Quest, this article was titled "Rounding Up the Usual-- and Not So Usual-- Suspects." The scene is familiar to everyone who watches crime dramas. The safe has been opened, and the hotel guests' jewelry and other valuables are missing. What happened, and when, and who's responsible?
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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.
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