Update on the etiology and pathogenesis of muscle dystonia

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Muscle dystonia is one of the most common extrapyramidal diseases and is the third most common after essential tremor and Parkinson’s disease. The introduction of diagnostic methods expanded the understanding of the genetic basis of muscle dystonia and neurophysiological mechanisms of dystonic phenomena. However, the questions of the etiology and pathogenesis of dystonia still remain the subject of close interest of researchers. The review provides up-to-date information about the etiology and pathogenesis of muscle dystonia. Recent changes in the genetic nomenclature of dystonia are described. Modern ideas about the pathogenetic significance of such mechanisms as abnormalities of neural inhibition, disturbances of sensorimotor integration, and abnormalities of neural plasticity are considered. Recent research data support the concept of systemic sensorimotor disintegration, including not only basal ganglia dysfunction, but also motor network disorders involving the cerebellum, cortex, midbrain, thalamus and other areas.

Keywords:

muscular dystonia

genetics of muscular dystonia

pathogenesis of dystonia

neurophysiology of dystonia

Authors:

Bushueva O.O.

Privolzhsky Research Medical University;
City Hospital N 33

Antipenko E.A.

Privolzhsky Research Medical University

SPIN RSCI: 7708-9068
Scopus AuthorID: 34871353400
ORCID: 0000-0002-8972-9150

Received:

18.06.2020

Accepted:

15.07.2020

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