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 ...
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, ...
Regina Trollmann, MD, of the Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany, and colleagues, did a retrospective ...
Spinal muscular atrophy (SMA) Type 1 is a rare but serious genetic condition that weakens muscles and can make basic activities like eating and breathing hard for babies. Early treatment—especially ...
Forbes contributors publish independent expert analyses and insights. Spinal muscular atrophy affects the nerves that control muscle movement, leading to progressive weakening. As a result, infants ...
A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research ...
Ravindra Singh has spent years studying a gene that when missing or mutated causes spinal muscular atrophy (SMA), a deadly disease that's among the most common genetic disorders in children. His ...
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 ...
Fast functional testing of genetic variants, from newborn genomes to disease models like zebrafish, is transforming ambiguous DNA findings into confident, real‑time treatment decisions.
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.