The role of a neurologist in multidisciplinary care of patients with spinal muscular atrophy

Czech version

Authors: L. Juříková; Z. Bálintová
Authors‘ workplace: Klinika dětské neurologie LF MU a FN Brno
Published in: Cesk Slov Neurol N 2020; 83/116(Supplementum 2): 6-7
doi: https://doi.org/10.48095/cccsnn20202S6

Overview

Care for neuromuscular patients, including also patients with spinal muscular atrophy, must be multidisciplinary. That is why these patients should be visited in specialised neuromuscular centres. Adult or child neurologists coordinates this care and cooperates with other specialists. He also indicates therapy, if it is possible. New drugs in clinical practice as well as in clinical trials together with better multidisciplinary care can prolong patients’ life and improve its quality.

Keywords:

spinal muscular atrophy – multidisciplinary care – neuromuscular centres – Quality of life – Spinraza

Sources

1. Sugarman EA, Nagan N, Zhu H et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; 20(1): 27–32. doi: 10.1038/ ejhg.2011.134.

2. Chiriboga CA, Castro DP, Schroth M et al. Collaborating in the care of spinal muscular atrophy: a multidisciplinary approach to timely screening, diagnosis and management. [online]. Available from URL: http:/ / mdedge-files-live.s3.us-east-2.amazonaws.com/ files/ s3fs-public/ nr_spinalatrosma_1019_allpages.pdf.

3. Finkel RS, Sejersen T, Mercuri E. 218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19–21 February 2016. Neuromuscul Disord 2017; 27(6): 596–605. doi: 10.1016/ j.nmd.2017.02.014.

4. Ottesen EW. ISS-N1 makes the First FDA-approved drug for spinal muscular atrophy. Transl Neurosci 2017; 8: 1–6. doi: 10.1515/ tnsci-2017-0001

5. Vlčková E, Voháňka S, Rajdová A et al. Neuromuskulární choroby a gravidita. Cesk Slov Neurol N 2019; 82/ 115(3): 252–264. doi: 10.14735/ amcsnn2019252.

6. Haberlová J. Multioborová péče ve specializovaných centrech – aktuální situace v České republice. In: Kočová H (ed). Spinální svalová atrofie v souvislostech. Praha: Grada 2017.