https://www.neurology.org/doi/10.1212/CPJ.0000000000200224
Background and Objectives. Spinal muscular atrophy (SMA) is a neurodegenerative disorder manifesting with progressive muscle weakness and atrophy. SMA type 1 used to be fatal within the first 2 years of life, but is now treatable with therapies targeting splicing modification and gene replacement. Nusinersen, risdiplam, and onasemnogene

https://www.curesma.org/
Cure SMA leads the way to a world where everyone impacted by spinal muscular atrophy is empowered to lead independent, successful, and fulfilling lives. Our powerful progress includes: Three approved treatments for SMA. Newborn screening across 100% of the U.S. More clinical trials happening than ever before.

https://www.curesma.org/clinical-resources/
Respiratory management of children with spinal muscular atrophy (SMA) Fauroux B, Griffon L, Amaddeo A, et al. Arch Pediatr. 2020; 27(7S):7S29-7S34. Changing respiratory expectations with the new disease trajectory of nusinersen treated spinal muscular atrophy [SMA] type 1 Fitzgerald DA, Doumit M, Abel F. Paediatr Respir Rev. 2018; 28:11-17.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324491/
Introduction. Spinal muscular atrophy (SMA), a childhood-onset motor neuron disease, has historically been the most frequent genetic cause of infant mortality, 1 although this is likely to change with the recent therapeutic "revolution." SMA, caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, leads to loss of SMN protein expression.This is partially compensated for by

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408870/
Spinal muscular atrophy (SMA) is a heterogeneous hereditary neuromuscular disease, presenting with progressive weakness of skeletal and respiratory muscles, leading to muscle atrophy and significant disability. The disease is caused by a homozygous deletion or a heterozygous deletion combined with point mutation on the other allele on the

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7337203/
Introduction. Spinal muscle atrophy (SMA) is an autosomal recessive neurodegenerative disease and a leading global genetic cause of infant death. 1 It is characterized by the loss of α motor neurons from the anterior horn of the spinal cord resulting in muscle weakness, trunk paralysis, and muscle atrophy. 2 With an estimated prevalence of 1

https://www.hopkinsmedicine.org/health/conditions-and-diseases/spinal-muscular-atrophy-sma
Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. These cells are located in the spinal cord. Because the muscles cannot respond to signals from the nerves, they atrophy — weaken and shrink — from inactivity. One in every 6,000 babies is born with SMA.

https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma
SMA type 2 (intermediate SMA): Symptoms of type 2 SMA (also called Dubowitz disease) appear between six months and 18 months of life. Symptoms include hypotonia and worsening muscle weakness, which tends to affect their legs more than their arms. Children with type 2 SMA may be able to sit up but can't walk.

https://pubmed.ncbi.nlm.nih.gov/34337562/
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the most severe cases and when left untreated, leads to death within the first two years of life. Recent therapeutic advances have given hope to families and patients by compensating for the deficiency in survival motor neuron (SMN) protein via gene therapy

https://www.healthline.com/health/spinal-muscular-atrophy/sma-treatment-options
Evrysdi. Evrysdi is the first oral medication approved for the treatment of SMA. It's composed of a small molecule that works by modifying the amount of SMN protein that's made from the SMN2

https://www.medicalnewstoday.com/articles/spinal-muscular-atrophy-treatment
Spinal muscular atrophy (SMA) is a group of serious, progressive diseases that destroys motor neuron cells. SMA treatment aims to reduce symptoms and slow or stop the progression of the disease.

https://www.curesma.org/spinal-muscular-atrophy-treatment/
The loss of SMN protein also impacts other systems, pathways, and processes, and other (SMA) spinal muscular atrophy treatments target these systems. These approaches are often called "non-SMN" approaches. Many of these non-SMN approaches target the muscles or nerves. Many researchers believe that it will take a combination of SMN-based and

https://www.webmd.com/brain/spinal-muscular-atrophy
Spinal Muscular Atrophy Causes. SMA is a disease that's passed down through families. If your child has SMA, it's because they have two copies of a broken gene, one from each parent. When this

https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy
Last reviewed on November 28, 2023. Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that can damage and kill specialized nerve cells in the brain and spinal cord (motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029319/
The SMA landscape has changed considerably since the first reports more than a century ago of patients with spinal muscular atrophy (SMA) by Werdnig and Hofmann in 1891 and 1893 . Decoding the disease's genetic background, first in linkage analyses [ 3, 4 ] and later by identifying mutations in SMN1 as disease-causing [ 5 ], paved the way for

https://smafoundation.org/about-sma/faq/
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle weakness and muscle atrophy. Patients with SMA generally start to show symptoms early in life, and the disease becomes more severe over time. SMA is the leading genetic cause of death in infants and toddlers.

https://www.nature.com/articles/s41582-020-00413-4
The classic form of spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that involves progressive degeneration of α-motor neurons in the spinal cord 1. SMA is one of the

https://link.springer.com/article/10.1007/s10072-021-05258-3
Spinal muscular atrophy (SMA) is a severe disorder of motor neurons and the most frequent cause of genetic mortality, due to respiratory complications. We are facing an exciting era with three available therapeutic options in a disease considered incurable for more than a century. However, the availability of effective approaches has raised up ethical, medical, and financial issues that are

https://pubmed.ncbi.nlm.nih.gov/36550013/
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder related to motor neuron degeneration. SMA patients present generally severe muscular weakness and atrophy, which can reduce life expectancy and lead to severe functional disability. In recent years, the management of

https://www.nature.com/articles/s41582-020-00410-7
Glascock, J. et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul. Dis. 7, 97-100 (2020).

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385518/
INTRODUCTION. Supportive care is the cornerstone of clinical man-agement in Spinal Muscular Atrophy (SMA). The emergence of disease-modifying medicines (e.g. nusinersen, onasemnogene abeparvovec-xioi, risdiplam) has delivered options that have improved survival rates for the most severe forms of the disease [], offered hope for a longer and improved quality of life (QoL) and impacted care

https://pubmed.ncbi.nlm.nih.gov/36762938/
Spinal muscular atrophy (SMA) is a recessive, neurodegenerative disorder. It is one of the most common genetic causes of infant mortality and is characterized by muscle weakness, loss of ambulation, and respiratory failure. SMA is primarily caused by a homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398149/
Results from the health care sector perspective for the 3 different populations are presented in Table 1. For the Type I SMA model, incremental cost-effectiveness ratios compared with BSC are approximately $1.1 million per QALY gained for Spinraza and approximately $243,000 per QALY for Zolgensma.