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
Taking the next steps to improve patient outcomes in SMA: Early diagnosis and treatment
Learn more about the early diagnosis and treatment of spinal muscular atrophy (SMA) in this discussion between three internationally renowned experts. For subtitles in Spanish and Brazilian Portuguese, please click [CC] on the video player below.
- Recall the outcomes associated with early treatment initiation for patients with SMA
- Discuss strategies for diagnosing SMA as early as possible
- Describe the latest research findings for biomarkers in SMA
Presentation, diagnosis and management of SMA: Multidisciplinary perspectives
Watch leading experts discuss the diagnosis and management of spinal muscular atrophy (SMA), including causes of diagnostic delay, emerging treatment approaches and the crucial role of the multidisciplinary team in the management of this disease. Dr Nancy Kuntz (Ann & Robert H. Lurie Children’s Hospital of Chicago) discusses the diagnosis of SMA, Dr Eduardo Tizzano (Hospital Vall d’Hebron, Barcelona) reviews clinical management and emerging therapeutic options, and Dr Oscar H. Mayer (The Children’s Hospital of Philadelphia) describes the crucial role of multidisciplinary management.
- Identify patients at risk of spinal muscular atrophy (SMA) through genetic screening and recognize early symptoms in the disease course
- Describe key trial and registry data (including antisense oligonucleotide and gene therapy) supporting improved treatment practice and outcomes in SMA patients
- Discuss roles within the multidisciplinary team (MDT) and impact of a standardized treatment approach across the MDT including utilization of guidelines and treatment innovations for SMA patients in clinical practice
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, […]
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