The tiny zebrafish is helping researchers rapidly determine whether a newborn's genetic mutation is likely to cause spinal ...

The tiny zebrafish is helping researchers rapidly determine whether a newborn's genetic mutation is likely to cause spinal ...

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 ...

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 ...

A couple whose son died from a rare genetic condition are encouraging others to take part in screening which they say could ...

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, ...

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 ...

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 ...

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.

More than two years after the Government committed to adding SMA to newborn testing, families are still waiting ...

Credit: Novartis. The approval was supported by data from phase 3 STEER study, which enrolled patients with SMA who were treatment-naive and able to sit but never able to walk independently. Itvisma ...