[Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)].
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Abstract
Author information unavailable
Abstract
Spinal muscular atrophy (SMA) is a common degenerative neurological disease characterized by progressive muscle weakness and atrophy. In recent years, disease-modifying therapies have emerged and changed the natural course of SMA, with pre-symptomatic diagnosis and treatment being superior to post symptom treatment. Therefore, in order to standardize and guide the current newborn screening work of SMA, we organized national experts from related fields across the country to reach the following consensus: the SMA newborn screening process and related issues, the SMA post-screening diagnosis process and related issues, and the disease management of screened and confirmed SMA newborns, etc.
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Spinal muscular atrophy (SMA) is a common degenerative neurological disease characterized by progressive muscle weakness and atrophy. In recent years, disease-modifying therapies have emerged and changed the natural course of SMA, with pre-symptomatic diagnosis and treatment being superior to post symptom treatment. Therefore, in order to standardize and guide the current newborn screening work of SMA, we organized national experts from related fields across the country to reach the following consensus: the SMA newborn screening process and related issues, the SMA post-screening diagnosis process and related issues, and the disease management of screened and confirmed SMA newborns, etc.
Key concepts: SMA*, Spinal muscular atrophy, Medicine, Weakness, Physical medicine and rehabilitation, Disease, Atrophy, Physical therapy