Genetic testing for autonomic dysfunction or dysautonomias

Main Article Content

Paolo Enrico Maltese
Elena Manara
Tommaso Beccari
Munis Dundar
Natale Capodicasa
Ariola Bacu
Matteo Bertelli

Keywords

autonomic dysfunction, dysautonomia, genetic test

Abstract

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.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...
Abstract 1 |

References

[1] Janig W. Integrative action of the autonomic nervous system: neurobiology of homeostasis. Cambridge: Cambridge University Press, 2006.
[2] Gibbons CH. Basics of autonomic nervous system function. Handb Clin Neurol 2019; 160: 407-18.
[3] Wehrwein EA, Orer HS, Barman SM. Overview of the anatomy, physiology, and pharmacology of the autonomic nervous system. Compr Physiol 2016; 6: 1239-78.
[4] https://www.healthline.com/health/autonomic-dysfunction
[5] 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/
[6] https://www.mayoclinic.org/diseases-conditions/autonomic-neuropathy/symptoms-causes/syc-20369829