Source Reference: Crawford TO, et al "Safety and efficacy of apitegromab in patients with spinal muscular atrophy types 2 and 3" Neurology 2024; DOI: 10.1212/WNL.000000000020915.

Miller, N., et al. (2023) Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy.PNAS. doi ...

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 ...

Spinal muscular atrophy (SMA) is a genetic disorder that is caused by the absence of the survival of motor neurons 1 (SMN1) protein-encoding gene on chromosome 5 (5q13).

Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene, which encodes survival motor neuron 1, leading to reduced protein expression levels and degeneration of motor neurons in the ...

The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy. Scientists ...

A Boston-area biopharmaceutical firm has submitted a biologics license application to the FDA for its investigational, fully human monoclonal antibody to treat individuals with spinal muscular ...

About Spinal Muscular Atrophy (SMA) SMA is caused by a mutated or missing survival motor neuron 1 (SMN1) gene, leading to insufficient production of SMN protein and resulting in motor neuron loss ...

Infantile spinal muscular atrophy (SMA) is a neuromuscular disorder affecting infants and children. ... People with SMA do not have the survival motor neuron (SMN) protein, ...

An infant with spinal muscular atrophy was treated whilst still in the womb for the first time ever. ... which contains instructions for how to make a protein called survival motor neuron ...

Evrysdi is a survival motor neuron 2 (SMN2) pre-mRNA splicing modifier designed to treat SMA caused by mutations in chromosome 5q that lead to survival of motor neuron (SMN) protein deficiency.

Newborn being treated for spinal muscular atrophy before symptoms set in Baby was found carrying the SMN1 gene mutation for the ailment through prenatal genetic screening and is being treated with ...