Abstract

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.

Highlights

  • Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both

  • Since diagnosis of potential cases in domestic animals is important for prognosis, genetic counseling, and treatment of affected individuals, this review provides a comparative view on these movement disorders

  • The aim of this review is to explore the possibility that distinct neurological movement disorders in domestic animals, rarely described in the literature, represent a type of dystonia or dystonia-associated dyskinesia

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Summary

Introduction

Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. We draw comparisons between movement disorders in domestic animals and human dystonia/paroxysmal dyskinesias. The signs in mutant hamsters show the characteristics of human paroxysmal non-kinesigenic dyskinesia with dystonia as the dominant feature and are based on basal-ganglia dysfunctions [59].

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