Genetic testing for autonomic dysfunction or dysautonomias
Keywords:
autonomic dysfunction, dysautonomia, genetic testAbstract
Background and aim: The autonomic system is made of two divisions called the sympathetic and parasympathetic nervous systems and extends from the central to the peripheral nervous system for controlling homeostasis. Autonomic dysfunction, also known as dysautonomia, occurs when the nerves that control involuntary bodily functions do not work properly. The aim of this mini-review is to summarize all the syndromes characterized by dysautonomia and for which the associated gene is known. Methods: We searched those syndromes in PubMed and OMIM database. Results: We found 36 genetic syndromes characterized by autonomic dysfunction. Conclusions: We propose genetic testing in all cases of idiopathic autonomic dysfunction. A genetic test with these genes would make it possible to determine the molecular diagnosis of new subjects and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.
References
Janig W. Integrative action of the autonomic nervous system: neurobiology of homeostasis. Cambridge: Cambridge University Press, 2006.
Gibbons CH. Basics of autonomic nervous system function. Handb Clin Neurol 2019; 160: 407-18.
Wehrwein EA, Orer HS, Barman SM. Overview of the anatomy, physiology, and pharmacology of the autonomic nervous system. Compr Physiol 2016; 6: 1239-78.
https://www.healthline.com/health/autonomic-dysfunction
Sánchez-Manso JC, Muppidi V, Varacallo M. Autonomic Dysfunction. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430888/
https://www.mayoclinic.org/diseases-conditions/autonomic-neuropathy/symptoms-causes/syc-20369829
Downloads
Published
Issue
Section
License
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Transfer of Copyright and Permission to Reproduce Parts of Published Papers.
Authors retain the copyright for their published work. No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. Reproductions with commercial intent will require written permission and payment of royalties.