A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

Roche to present latest scientific advancements from its neuromuscular portfolio at Muscular Dystrophy Association 2025 conference: Basel Tuesday, March 18, 2025, 11:00 Hrs [IST] ...

SMA is mainly caused by mutations in the gene SMN1, which provides instructions for making the SMN protein. This protein is essential for the proper functioning of motor neurons, the specialized nerve ...

Scholar Rock (NASDAQ: SRRK), a late-stage biopharmaceutical company focused on advancing innovative treatments for ...

Related: The exceptionally rare disease that causes holes to form in your brain The condition is usually caused by mutations in a gene called SMN1, which contains instructions for how to make a ...

Doctors in the US have treated a fetus with a rapidly progressive congenital disease while in the uterus for the very first ...

It has five subtypes, of which type 1 is considered to be the most severe; people with this form have a mutation in both copies of a gene called SMN1, which encodes a protein called SMN that ...

1 Dysfunctional or insufficient concentrations of the SMN protein leads to SMA symptoms, including muscle weakness, movement difficulties, and muscle atrophy affecting the extremities, trunk, and ...

Evrysdi is a small molecule that works by addressing the underlying cause of SMA, which is a low amount of survival motor neuron protein, known as SMN. This protein is essential for the health of ...

Risdiplam works by targeting the SMN2 gene to induce increased production of the survival motor neuron (SMN) protein; a deficiency of this protein is what causes the most common forms of SMA.