Muscle weakness could be a sign of spinal muscular atrophy, which can strike all ages but is the No. 1 genetic cause of death in infants. Here's what it is and what you can do about it.

Spinal muscular atrophy (SMA) is a genetic disorder caused by a homozygous recessive mutation in a gene on chromosome 5 (5q13), called the survival motor neuron 1 (SMN1) gene. It is due to ...

Spinal muscular atrophy (SMA) is a devastating pediatric neuromuscular disorder caused by loss-of-function mutations in the SMN1 gene, which prevents the body from producing enough of the survival ...

Learn about the promising advance in prenatal treatment of spinal muscular atrophy, introducing a potential approach to suppress symptoms of the disorder in infants.

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, ...

EXG001-307 is a recombinant AAV (rAAV) gene therapy in Phase 1/2 clinical development for Spinal Muscular Atrophy Type 1 in China. The company plans to file a US IND for EXG001-307 in 2024.

Abstract Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by mutations in the SMN1 gene that reduce survival motor neuron (SMN) protein expression. Despite progress in the ...

Majority of Children With Spinal Muscular Atrophy (SMA) Treated With Genentech’s Evrysdi Are Able to Sit, Stand and Walk Independently, Two-Year Data Demonstrate ...

These results imply that using base editing to restore SMN protein levels may help SMA patients achieve long-lasting results.

Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.

Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy, a finding that could lead to a new therapy for a disease that affects 1 in 6,000 children.