Federal committee votes to add the enzyme deficiency disorder to the list of recommended conditions for which states screen newborns
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.
Beth and Dan Gore have a most extraordinary family. Over the past dozen years, the Brandon, Fla., couple has adopted six children with disabilities, the youngest being Manny, a 3-year-old with congenital muscular dystrophy.
Meet Manny. He's one of six children with disabilities adopted by Beth and Dan Gore of Brandon, Fla. Three-year-old Manny — who has merosin-deficient congenital muscular dystrophy and has been in and out of the hospital due to gastrointestinal, respiratory and cardiac issues — is the subject of Beth’s fifth published children’s book, Mighty Manny.
Longtime MDA research grantee Jerry Mendell discusses his group's development of a feasible strategy for screening newborn babies for Duchenne MD
An April 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, explores the implications of a recently developed strategy for newborn screening for Duchenne muscular dystrophy (DMD).
The podcast is part of a Nationwide Children's series called "This Month in Muscular Dystrophy."
Students hop to help fight muscle disease, while learning core values of awareness, acceptance and assistance
Hopping isn’t just for bunnies.
Each year thousands of preschools, day care centers and elementary schools across the country are taken over by swarms of hopping students, all doing their part to help children with neuromuscular disease.
A big sports fan with a bigger heart, this 11-year-old is ready to speak out for MDA
Bryson Foster dreams big. No, make that B-I-G.
But those with big hearts usually do.
"Even if you dream small, those small things can turn into big things in the end," says Bryson, with wisdom beyond his 11 years.
In true sports vernacular, he adds: "Go big or go home."
So, Bryson continues to dream about one day being the starting quarterback for his beloved Cincinnati Bengals, or a professional...
Life-threatening complications at birth and progress in early childhood characterize congenital MMD1
Concern about Cody Beam started right away. "About 12 minutes after he was born, he quit breathing while my husband was holding him," recalls Cody’s mother, Tina Beam, of Arlington, Wash.
Cody, born at Providence Regional Medical Center in Everett, Wash., was "very floppy and couldn't swallow," Tina recalls. He was whisked away to the neonatal intensive care unit, where he was placed on a...
Ron Hayes didn't get a diagnosis of type 1 myotonic dystrophy (MMD1 or DM1) until he was 54, long after he had enjoyed academic and athletic success in high school and college, had earned a master's degree in public health, had married and had children, and had established himself in a career.