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 ...

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, ...

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 ...

Infantile spinal muscular atrophy (SMA) is a neuromuscular disorder that affects the nerve cells in the spinal cord. It causes muscles to weaken and limits muscle movement. SMA is a rare condition.

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.

"The benefits of newborn screening identified in the study presented here encompass not only the achievement of motor milestones, but also a reduced need for ventilator support or tube feeding and 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 ...

Spinal muscular atrophy (SMA) is a leading cause of infant mortality. Most cases of the disease are caused by mutations in a gene called SMN1 that reduce the production of functional SMN protein, ...

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 ...

Spinal muscular atrophy is a rare genetic disease of the nerve cells in the spinal cord that can appear as early as infancy. The disease leads to a progressive loss of muscle strength. Those affected ...

Spinal muscular atrophy affects all the body's muscles. For a long time, it was considered a disease caused solely by the ...

This is a video synopsis/summary of a Peer Exchange involving Ryan Haumschild, PharmD, MS, MBA; Jessica Nance, MD, MS; Kimberly C. Chen, DO, MSHLM; Emma Ciafaloni, MD, FAAN; and Mary Pak, MD, FACP.