The non-motor syndrome of primary dystonia: clinical and pathophysiological implications

Abstract

Dystonia is typically considered a movement disorder characterized by motor manifestations, primarily involuntary muscle contractions causing twisting movements and abnormal postures. However, growing evidence indicates an important non-motor component to primary dystonia, including abnormalities in sensory and perceptual functions, as well as neuropsychiatric, cognitive and sleep domains. Here, we review this evidence and discuss its clinical and pathophysiological implications.

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Figure 1

A hypothesis on the pathophysiology of the motor and non-motor features of primary dystonia. Genetic susceptibility could lead to a neurochemical and functional imbalance in the basal ganglia (but possibly even more widespread) that subsequently may lead to a widespread loss of inhibition and increased plasticity, which may underlie the pathophysiology of the non-motor features of primary dystonia. The presence of other factors such as repetitive activity, trauma or emotional arousal and stress, could lead to a breakdown of compensatory mechanisms and ultimately to the motor manifestation of dystonia.