Neuromuscular Scoliosis: When, Who, Why and Outcomes.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: Disclosure The authors have nothing to disclose. 18. Ortop Traumatol Rehabil. 2019 Aug 31;21(4):253-260. doi: 10.5604/01.3001.0013.5070. Adolescent Idiopathic Scoliosis - Future Molecular-Based Diagnostic and Prognostic Testing. Zamborský R(1), Liščák B(1), Trepáč M(1), Švec A(2), Danisovič Ľ(3). Author information: (1)Department of Orthopaedics, Faculty of Medicine, Comenius University and The National Institute of Children's Diseases, Bratislava, Slovak Republic. (2)1st Department of Orthopaedics and Traumatology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovak Republic. (3)Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovak Republic. Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine mainly affecting the younger population. Earlier detection of the disorder leads to appropriate treatment and better outcomes, thus avoiding highly invasive surgical treatments. The currently available tests for the disease identification have lost their reliability and validity with time. In the past few decades, efforts have been directed towards developing a highly reliable prognostic test for AIS. Towards this end, several strategies have been employed including biochemical, biomechanical and gene-based tests. Among the three, the gene-based technology has received much attention in recent past. Notably, this is due to the fact that the human genome project, followed by genome-wide association studies (GWAS), facilitated the identification of candidate genes for disorders like AIS. Several promising biomarker genes have been identified. However, their global validations were disappointing as these genes were shown to be limited to a particular group of people/ethnicities. Such observations limit the development of a reliable global molecular/biochemical test for AIS. The currently used AIS ScoliScoreTM also has several limitations. With continued disappointments in the identification of biomarkers for AIS and lack of appropriate tests, researchers have diverted their efforts towards several alternative avenues. A ray of hope is emerging from recent observations on the association of non-coding microRNAs and epigenetic factors that might arise as future reliable markers for AIS, thus paving the way for appropriate clinical management of this disorder. DOI: 10.5604/01.3001.0013.5070