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
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)? […]
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