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CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
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CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
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Journal Article
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
2021
Overview
Purpose
Early identification and treatment of spinal muscular atrophy (SMA) are crucial but difficult. In this study, we aimed to assess the significance of compound motor action potential (CMAP) amplitude in patients identified through a newborn screening program.
Methods
We initiated a large-scale population newborn screening program for SMA in Taiwan in 2014. Patients had access to treatment through clinical trials or expanded use programs. Symptomatic patients were evaluated regularly, including CMAP exams.
Results
Among 364,000 screened newborns, 21 were diagnosed with SMA. The incidence of SMA was around 1 in 17,000 live births, and 70% developed SMA type 1. All infants with two
SMN2
copies became symptomatic before the age of 1 month. CMAP amplitudes of 12 newborns were available, including 6 who were subsequently treated with nusinersen. We found that a rapid decrease of CMAP amplitude was an early predictor of symptom onset. Pretreatment CMAP and rapid increment of post-treatment CMAP could predict better treatment outcomes.
Conclusion
This study prospectively demonstrated the incidence of SMA and its types. Our results imply the importance of pretreatment CMAP amplitude and rapid reversal of post-treatment CMAP amplitude with regard to disease presentation and also treatment outcomes.
Publisher
Nature Publishing Group US,Elsevier Limited
Subject
/ Age
/ Atrophy
/ Biomedical and Life Sciences
/ Humans
/ Infant
/ Muscular Atrophy, Spinal - diagnosis
/ Muscular Atrophy, Spinal - drug therapy
/ Muscular Atrophy, Spinal - epidemiology
/ Patients
/ Spinal Muscular Atrophies of Childhood - diagnosis
/ Spinal Muscular Atrophies of Childhood - drug therapy
