Room to improve: The diagnostic journey of Spinal Muscular Atrophy

Michael Carter, Andrea Tobin, Lucy Coy,Denise McDonald,Martina Hennessy,Declan O'Rourke

European Journal of Paediatric Neurology（2023）

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摘要

•Pre-symptomatic treatment is paramount when using novel gene therapies in spinal muscular atrophy.•Obstacles to pre-symptomatic diagnosis are not insurmountable.•Newborn screening offers the best route to early access to disease modifying treatments.

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关键词

Spinal Muscular Atrophy,Neuromuscular disorders,Newborn screening,Gene therapy

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