When we think about genetic diseases, the ones that usually come to mind are cystic fibrosis, Fragile X and, of course, Tay-Sachs disease. One disease that many people are not aware of is spinal ...
Spinal muscular atrophy with respiratory distress (SMARD) is a rare genetic condition that typically affects infants and children. It causes muscle weakness and breathing problems. Spinal muscular ...
NBS programs are fairly new in the U.S., so not much is known about variations among them or about provider practice patterns for newborns with SMA. In a survey of providers and state NBS programs, ...
1don MSN
Boy, 5, Born with Rare Genetic Disorder Walks by Himself After Receiving World’s Most Expensive Drug
A 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...
Infants with spinal muscular atrophy often have profound swallowing deficits in the first year of life if not treated with disease-modifying therapies. A recent study examined the characteristics, ...
CHESTERFIELD COUNTY, Va. (WRIC) — Spinal Muscular Atrophy (SMA) is a genetic disease that severely weakens muscles and causes developmental delays. It affects one in 10,000 American babies in the U.S.
Panelists discuss how spinal muscular atrophy is an autosomal recessive genetic disease affecting motor neurons with 3 currently approved disease-modifying therapies that restore SMN protein ...
In 2018, SMA genetic screening was added to the Recommended Uniform Screening Panel for newborns in the United States. 5,6 In addition, more states are adding SMA to their newborn screening panel. A ...
Spinal muscular atrophy (SMA) is a debilitating genetic condition that’s usually fatal by a few years of age. But an intriguing case study might demonstrate a simple new treatment, with a child ...
Megan Molteni reports on discoveries from the frontiers of genomic medicine, neuroscience, and reproductive tech. She joined STAT in 2021 after covering health and science at WIRED. You can reach ...
This year’s most-read spinal muscular atrophy(SMA) articles explored mental health, new technologies, caregiver well-being, and more. The top 5 most-read spinal muscular atrophy (SMA) articles on AJMC ...
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease affecting specialized nerve cells that control voluntary muscle movement, according to the Muscular Dystrophy Association (MDA). It can ...
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