As muscle weakness progresses, people give different answers
In this age of obsession about body image, when someone asks me if I want a piece of strawberry pie for dessert, I’m apt to decline. “No thanks. I need to maintain my girlish figure.”
My playful reply is designed to conceal the fact that I’m actually assessing my ability, as a 40-pound skinny mini with spinal muscular atrophy type 2 (SMA2), to eat the pie.
The approval of Myozyme in 2006, after decades of research, has transformed Pompe disease from a severely disabling or fatal condition into a treatable, chronic disorder. But responses to the drug vary, its cost is high, and some questions remain unanswered.
Mia Hanley of Cranston, R.I., looks pretty much like any 4-year-old preschooler. She’s a normal height and weight, walks well and has good language skills. In fact, when she started preschool at age 3, her fine motor skills were so good that she didn’t qualify for special services in that area.
Looking at Mia, most people would never suspect she spends every other Friday at Hasbro Children’s...
(Note: For more on this topic, see “What Not to Eat.”)
Hank Santini, Hillary Gibson and Vincent DaSilva all have Pompe disease (acid maltase deficiency) and say they’ve benefited enormously from the advice they received on nutrition and exercise from metabolic endocrinologist Alfred Slonim, now at Columbia University in New York.
Some consensus, much controversy about diet in three metabolic diseases
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...
Most people with limited mobility don't need to be told how hard it is not to gain excess weight, but many don't know that restricting calories without regard to protein intake can add to muscle wasting. Two new studies say finding the right balance is a challenge.
Nutrition inadequate in many with MD
Researchers at McMaster University in Hamilton, Ontario, say adults with muscular dystrophy may...
Extra pounds carry more weight in neuromuscular disease
If you’re reading this article, you’ve probably already tried to lose weight. You already know the basic, simple formula for success (burn more calories than you eat), and you know just how devilishly hard it is to follow.
People with neuromuscular diseases are up against a double (or triple or quadruple) whammy when it comes to losing weight. In addition to the usual dieting challenges — yummy...
Dispatches from the battle of the bulge
In her daily life with mitochondrial myopathy, Deanna Briegge of Perry, Okla., often turns to this bit of wisdom from financial guru Bob Proctor: “You can do anything if you put your focus on how to do it, rather than on why you can’t.”
Although Briegge, 59, isn’t overweight, she sees her scale slowly creeping upward each year and tries to focus on ways to maintain health and fitness — watching...