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 ...

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.

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 ...

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, ...

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

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

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide. Currently, tests are unable to detect ...

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 ...

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

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 ...