Recent advances in understanding and managing dystonia

Abstract

Within the field of movement disorders, the conceptual understanding of dystonia has continued to evolve. Clinical advances have included improvements in recognition of certain features of dystonia, such as tremor, and understanding of phenotypic spectrums in the genetic dystonias and dystonia terminology and classification. Progress has also been made in the understanding of underlying biological processes which characterize dystonia from discoveries using approaches such as neurophysiology, functional imaging, genetics, and animal models. Important advances include the role of the cerebellum in dystonia, the concept of dystonia as an aberrant brain network disorder, additional evidence supporting the concept of dystonia endophenotypes, and new insights into psychogenic dystonia. These discoveries have begun to shape treatment approaches as, in parallel, important new treatment modalities, including magnetic resonance imaging-guided focused ultrasound, have emerged and existing interventions such as deep brain stimulation have been further refined. In this review, these topics are explored and discussed.

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe

“…The complexity of DBS treatment increases when different types of dystonia are concerned due to the availability of different targets (GPi, different thalamic targets, subthalamic nucleus), the wide range of possibilities with advanced stimulation options, and the variable response that can be observed. It is also worth mentioning that neurosurgical treatment of dystonia is not restricted to DBS alone but includes other options such as stereotactic lesioning, MRgFUS, or selective peripheral neurosurgery, which can be combined or may be proposed as an alternative or even as a rescue treatment in selected cases (96)(97)(98)(99)(100).…”

Neurophysiological insights in dystonia and its response to deep brain stimulation treatment

“…Traditional perspectives of dystonia as primarily due to abnormal basal ganglia activity have evolved to current the view of dystonia as a network disorder operating at all levels of the nervous system including cerebral cortex, thalamus, basal ganglia, cerebellum, brain stem and spinal cord (Tisch 2018 ). Important clinical hallmarks of dystonia including co-contraction and overflow of muscle activity, task and position specificity and sensory tricks (geste antagoniste), all recognized clinically for more than a century, are mediated by abnormal dystonia networks in which abnormal reflex activity to sensory inputs and sensory misprocessing play an important role.…”

“…The time course of the effect is gradual but the mobile components tend to respond quickly and the tonic elements take longer (Chung and Huh 2016 ). In addition, different causes of dystonia can have different outcomes after DBS (Tisch 2018 ). GPi is the most commonly used target but some patients have also been implanted in the subthalamic nucleus (STN) and the thalamus.…”

Olfaction as a Marker for Dystonia: Background, Current State and Directions

“…Several methods of research have been applied to unfold the pathophysiology of dystonia [ 50 , 51 , 52 , 53 , 54 , 55 , 56 , 68 ]. The most relevant tools for this purpose are likely neuroimaging, neurophysiological studies, and clinical studies (in particular, tremor), as they allow for the study of human subjects who actually have dystonia.…”

“…Although it is a common movement disorder, the pathophysiology of dystonia is incompletely understood [ 50 , 51 , 52 , 53 , 54 , 55 , 56 ]. A better understanding of dystonia pathophysiology is highly relevant because motor manifestations and non-motor alterations in dystonia cause significant disability [ 9 , 57 , 58 , 59 , 60 ].…”