Biomarkers for Spinal Muscular Atrophy

Spinal muscle atrophy (SMA) biomarkers are used to measure and evaluate the disease, and changes in the biomarkers may predict biological, physiological, or pharmacological changes before clinical detection. Biomarkers may also provide insight into disease progression that may allow personalized the...

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Veröffentlicht in:童綜合醫學雜誌 2021-12, Vol.15 (2), p.53-56
Hauptverfasser: 陳怡靜(Yi-Ching Chen), 范洪春(Hueng-Chuen Fan)
Format: Artikel
Sprache:eng
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Zusammenfassung:Spinal muscle atrophy (SMA) biomarkers are used to measure and evaluate the disease, and changes in the biomarkers may predict biological, physiological, or pharmacological changes before clinical detection. Biomarkers may also provide insight into disease progression that may allow personalized therapies for individuals with SMA, which can also be monitored by biomarkers. Several methods have been used to monitor SMA. These include molecular and physiological biomarkers, such as SMN2 copy number; SMN mRNA and protein levels; neurofilament proteins; plasma protein analytes like creatine kinase (CK) and creatinine (Crn); electrophysiological methods, such as compound muscle action potential (CMAP), motor unit number estimation (MUNE), motor unit number index (MUNIX), electrical impedance myography (EIM); and imaging techniques such as quantitative magnetic resonance imaging (qMRI) and muscle ultrasonography. Biomarkers provide information regarding the underlying mechanisms of disease, reveal subclinical disease progression, and allow for more precise timing and treatment dose in patients with SMA. Further research is necessary to elucidate the influence of biomarkers in modulating disease onset and progression as well as in therapeutic efficacy and treatment optimization.
ISSN:2071-3592
DOI:10.3966/207135922021121502001