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Genetic testing for autonomic dysfunction or dysautonomias.

Paolo Enrico Maltese1, Elena Manara2, Tommaso Beccari3

  • 1MAGI'S LAB, Rovereto (TN), Italy. paolo.maltese@assomagi.org.

Acta Bio-Medica : Atenei Parmensis
|November 10, 2020
PubMed
Summary

Genetic testing can diagnose 36 known genetic syndromes causing autonomic dysfunction (dysautonomia). This aids in molecular diagnosis and family risk assessment for better management.

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Area of Science:

  • Neuroscience
  • Genetics
  • Autonomic Nervous System

Background:

  • The autonomic nervous system regulates involuntary functions, maintaining homeostasis.
  • Autonomic dysfunction (dysautonomia) arises from improper nerve function in this system.

Purpose of the Study:

  • To review genetic syndromes associated with dysautonomia.
  • To identify syndromes with known genetic causes.

Main Methods:

  • Searched PubMed and OMIM databases for relevant syndromes.

Main Results:

  • Identified 36 genetic syndromes characterized by autonomic dysfunction.

Conclusions:

  • Genetic testing is recommended for idiopathic autonomic dysfunction.
  • Molecular diagnosis and recurrence risk assessment can guide preventive and therapeutic strategies.