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, ...

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 ...

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

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.

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 ...

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 ...

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

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 ...

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 ...

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