Spinal muscular atrophy
An Introduction to Spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is characterised by loss of motor neurons and progressive muscle weakness. It predominantly affects children and is the most common cause of hereditary infant mortality. The condition results from mutations in the SMN1 gene, which deplete the survival motor neuron protein (SMN). In 2016, the antisense therapy nusinersen became the first approved disease-modifying therapy for SMA. In 2019, a gene therapy, onasemnogene abeparvovec, also received regulatory approval. However, the high cost of these therapies limits their use. In 2020, an orally deliverable small molecule, risdiplam, became the third approved therapy for SMA, with another small molecule, branaplam, in clinical development.
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Spinal muscular atrophy Content
Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec
touchREVIEWS in Neurology. 2022;18(2): 133-41 DOI: https://doi.org/10.17925/USN.2022.18.2.133
Background for molecular-based therapy for spinal muscular atrophy Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the most common cause of infant death worldwide, with an incidence of 1:10,000 live births and carrier frequency of 1:50.1 This disease, caused by degeneration of spinal and bulbar motor neurons, is characterized by progressive muscle […]
Considerations for the selection of disease-modifying treatments in SMA: A case-based discussion
Three SMA experts use patient case studies to discuss factors influencing treatment decision-making with approved SMA therapies.
- Recall the licensed indications for available disease-modifying therapies for SMA
- Discuss factors which may impact treatment selection for individual patients with SMA
- Summarize benefit–risk profiles for approved treatments with respect to different SMA phenotypes at the time of diagnosis and into the future
Identifying, diagnosing and treating patients with later-onset SMA
Dr Julie Parsons reviews the diagnosis and approved treatments for later-onset SMA, highlighting their impact on the natural history of SMA.
- Recall possible symptoms of SMA in adolescent and adult patients and relevant differential diagnostic tests
- Appraise the role of current and future treatment approaches for improving outcomes in patients with older-onset SMA
- Evaluate how the natural history of SMA is evolving with the use of disease-modifying therapies
Maintaining quality of life in patients with later-onset SMA: The patient journey from diagnosis to management
Watch members of the MDT and two patients discuss the diagnosis and management of SMA in adolescents and adults.
- Recall the typical clinical presentation of patients with milder SMA phenotypes and the processes for differential diagnosis
- Discuss patient needs as they transition from paediatric to adult healthcare services
- Formulate processes for the provision of multidisciplinary care to adolescent and adult patients with SMA
Spinal Muscular Atrophy—Two Case Reports of Compound Heterozygosity
US Neurology. 2019:15(2):97–9 DOI: https://doi.org/10.17925/USN.2019.15.2.97
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder affecting approximately 1 in 10,000 births. It is characterized by predominantly proximal muscle weakness as a result of degeneration of anterior horn cells of the spinal cord.1 In most patients with SMA, the disease is caused by a homozygous deletion or mutation of the telomeric survival […]
John Bodensteiner, AAN 2018 – Advances in molecular and genetic diagnosis in paediatric neurology
John Bodensteiner (Consultant, Child and Adolescent Neurology), our Paediatric Neurology Section Editor for US Neurology, discusses the impact recent advances in molecular and genetic diagnosis have had in paediatric neurology on conditions such as Duchenne muscular dystrophy and spinal muscular atrophy. Speaker disclosure: John Bodensteiner has nothing to disclose in relation to this video interview. […]
Richard Finkel, AAN 2018 – Spinal muscular atrophy (SMA) is a treatable neurodegenerative disease
Richard Finkel (Nemours Children’s Hospital), recipient of this year’s Sidney Carter Award in Child Neurology, speaks to us on the topic of his presentation during the AAN 2018 Presidential Plenary Session, entitled: Spinal Muscular Atrophy Is a Treatable Neurodegenerative Disease. Questions 1. What is the mechanism of action of nusinersen in spinal muscular atrophy (SMA)? […]
AAN 2017 – John Bodensteiner Interview
Prof. John Bodensteiner, from the US Neurology Editorial Board, discusses the diagnostic benefits of nerve biopsies in pediatric neurology and reviews the most exciting developments in spinal muscular atrophy and Duchenne muscular dystrophy. Speaker disclosures: Data Safety Review Board Biogen. Filmed at the American Academy of Neurology (AAN) Annual Meeting, Boston, US, April […]
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