-
Nature Reviews. Disease Primers Sep 2018Dystonia is a neurological condition characterized by abnormal involuntary movements or postures owing to sustained or intermittent muscle contractions. Dystonia can be... (Review)
Review
Dystonia is a neurological condition characterized by abnormal involuntary movements or postures owing to sustained or intermittent muscle contractions. Dystonia can be the manifesting neurological sign of many disorders, either in isolation (isolated dystonia) or with additional signs (combined dystonia). The main focus of this Primer is forms of isolated dystonia of idiopathic or genetic aetiology. These disorders differ in manifestations and severity but can affect all age groups and lead to substantial disability and impaired quality of life. The discovery of genes underlying the mendelian forms of isolated or combined dystonia has led to a better understanding of its pathophysiology. In some of the most common genetic dystonias, such as those caused by TOR1A, THAP1, GCH1 and KMT2B mutations, and idiopathic dystonia, these mechanisms include abnormalities in transcriptional regulation, striatal dopaminergic signalling and synaptic plasticity and a loss of inhibition at neuronal circuits. The diagnosis of dystonia is largely based on clinical signs, and the diagnosis and aetiological definition of this disorder remain a challenge. Effective symptomatic treatments with pharmacological therapy (anticholinergics), intramuscular botulinum toxin injection and deep brain stimulation are available; however, future research will hopefully lead to reliable biomarkers, better treatments and cure of this disorder.
Topics: Baclofen; Basal Ganglia; Botulinum Toxins, Type A; Dopamine Agents; Dystonia; Dystonic Disorders; GABA-B Receptor Agonists; GTP Cyclohydrolase; Humans; Levodopa; Neuromuscular Agents; Quality of Life
PubMed: 30237473
DOI: 10.1038/s41572-018-0023-6 -
Neurology India 2018Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions that cause abnormal repetitive movements, abnormal postures,... (Review)
Review
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions that cause abnormal repetitive movements, abnormal postures, or both. The new consensus classifies dystonia into two axes to characterize clinical characteristics, and etiology. This system allows correct identification of isolated and combined forms of dystonia and retains the description of generalized and focal dystonia which is very useful in planning investigations and management. The characterization of dystonia for its better identification and a brief overview of its management are discussed in this article. The treatment options for dystonia include drugs, botulinum toxin and deep brain stimulation surgery.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Humans; Neurologic Examination
PubMed: 29503327
DOI: 10.4103/0028-3886.226439 -
Current Opinion in Neurology Aug 2018This survey takes into consideration the most recent advances in both human degenerative ataxias, disorders with a well established cerebellar origin, and discoveries... (Review)
Review
PURPOSE OF REVIEW
This survey takes into consideration the most recent advances in both human degenerative ataxias, disorders with a well established cerebellar origin, and discoveries from dystonia rodent models aimed at discussing the pathogenesis of dystonia.
RECENT FINDINGS
One common recurrent term that emerges when describing dystonia is heterogeneity. Indeed, dystonia encompasses a wide group of 'hyperkinetic' movement disorders, with heterogeneous causes, classification, anatomical and physiological substrates. In addition, the clinical heterogeneity of age at onset, symptom distribution and appearance of non-motor symptoms has supported the concept of dystonia as 'network' disorder. Pathophysiological alterations are thought to arise from dysfunction at cortico-thalamic-basal ganglia level, whereas, more recently, a role for cerebellar pathways emerged. Results from human and animal studies thus fuel the evolving concept of the network disorder.
SUMMARY
Current evidence suggests the involvement of multiple brain regions and cellular mechanisms, as part of the neural dysfunction observed at system level in dystonia.
Topics: Ataxia; Biological Evolution; Dystonia; Dystonic Disorders; Humans; Nerve Net
PubMed: 29746398
DOI: 10.1097/WCO.0000000000000580 -
Advances in Neurobiology 2023Isolated dystonia is a neurological disorder of diverse etiology, multifactorial pathophysiology, and wide spectrum of clinical presentations. We review the recent... (Review)
Review
Isolated dystonia is a neurological disorder of diverse etiology, multifactorial pathophysiology, and wide spectrum of clinical presentations. We review the recent neuroimaging advances that led to the conceptualization of dystonia as a neural network disorder and discuss how current knowledge is shaping the identification of biomarkers of dystonia and the development of novel pharmacological therapies.
Topics: Humans; Brain; Dystonia; Connectome; Magnetic Resonance Imaging; Dystonic Disorders
PubMed: 37338705
DOI: 10.1007/978-3-031-26220-3_13 -
Parkinsonism & Related Disorders May 2024
Topics: Humans; Dystonia; Female; Dystonic Disorders; Male; Middle Aged
PubMed: 38462402
DOI: 10.1016/j.parkreldis.2024.106084 -
Movement Disorders : Official Journal... Dec 2022
Topics: Humans; Dystonia; Disruptive, Impulse Control, and Conduct Disorders; Dystonic Disorders
PubMed: 36168795
DOI: 10.1002/mds.29230 -
Continuum (Minneapolis, Minn.) Oct 2022This article discusses the most recent findings regarding the diagnosis, classification, and management of genetic and idiopathic dystonia. (Review)
Review
PURPOSE OF REVIEW
This article discusses the most recent findings regarding the diagnosis, classification, and management of genetic and idiopathic dystonia.
RECENT FINDINGS
A new approach to classifying dystonia has been created with the aim to increase the recognition and diagnosis of dystonia. Molecular biology and genetic studies have identified several genes and biological pathways involved in dystonia.
SUMMARY
Dystonia is a common movement disorder involving abnormal, often twisting, postures and is a challenging condition to diagnose. The pathophysiology of dystonia involves abnormalities in brain motor networks in the context of genetic factors. Dystonia has genetic, idiopathic, and acquired forms, with a wide phenotypic spectrum, and is a common feature in complex neurologic disorders. Dystonia can be isolated or combined with another movement disorder and may be focal, segmental, multifocal, or generalized in distribution, with some forms only occurring during the performance of specific tasks (task-specific dystonia). Dystonia is classified by clinical characteristics and presumed etiology. The management of dystonia involves accurate diagnosis, followed by treatment with botulinum toxin injections, oral medications, and surgical therapies (mainly deep brain stimulation), as well as pathogenesis-directed treatments, including the prospect of disease-modifying or gene therapies.
Topics: Botulinum Toxins; Brain; Dystonia; Dystonic Disorders; Humans; Movement Disorders
PubMed: 36222773
DOI: 10.1212/CON.0000000000001159 -
Developmental Medicine and Child... Feb 2014Status dystonicus is a rare, but life-threatening movement disorder emergency. Urgent assessment is required and management is tailored to patient characteristics and... (Review)
Review
Status dystonicus is a rare, but life-threatening movement disorder emergency. Urgent assessment is required and management is tailored to patient characteristics and complications. The use of dystonia action plans and early recognition of worsening dystonia may potentially facilitate intervention or prevent progression to status dystonicus. However, for established status dystonicus, rapidly deployed temporizing measures and different depths of sedation in an intensive care unit or high dependency unit are the most immediate and effective modalities for abating life-threatening spasms, while dystonia-specific treatment takes effect. If refractory status dystonicus persists despite orally active anti-dystonia drugs and unsuccessful weaning from sedative or anaesthetic agents, early consideration of intrathecal baclofen or deep brain stimulation is required. During status dystonicus, precise documentation of dystonia sites and severity as well as the baseline clinical state, using rating scales and videos is recommended. Further published descriptions of the clinical nature, timing of evolution, resolution, and epidemiology of status dystonicus are essential for a better collective understanding of this poorly understood heterogeneous emergency. In this review, we provide an overview of the clinical presentation and suggest a management approach for status dystonicus.
Topics: Adolescent; Baclofen; Child; Child, Preschool; Chloral Hydrate; Clonidine; Combined Modality Therapy; Conscious Sedation; Critical Pathways; Deep Brain Stimulation; Diagnosis, Differential; Dystonic Disorders; Emergencies; Humans; Infant; Injections, Spinal; Intensive Care Units, Pediatric; Intubation, Gastrointestinal; Pallidotomy; Risk Factors; Thalamus
PubMed: 24304390
DOI: 10.1111/dmcn.12339 -
No Shinkei Geka. Neurological Surgery Jul 2021Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Currently,...
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Currently, dystonia is defined as a network disorder involving the basal ganglia, cerebellum, thalamus, and sensorimotor cortex. Considering that it is refractory to medical therapy, functional neurosurgery is indispensable in the treatment strategy for dystonia. Functional neurosurgery may improve dystonic symptoms by suppressing abnormal neuronal activity in the motor loop network. Deep brain stimulation(DBS)of the globus pallidus internus(GPi)is a useful surgical treatment for genetically defined and primary dystonia involving the axial musculature. Thalamic ventral oral(Vo)nucleus surgery is recommended for cases of peripheral dystonia, such as writer's cramp and other occupational types of dystonia. However, pallidal DBS is less effective in cases of secondary dystonia, with the exception of tardive dystonia. Recent studies have reevaluated that ablation surgery is the last-resort treatment when DBS must be discontinued for certain conditions. Magnetic resonance-guided focused ultrasound(MRgFUS), a novel, incision-free, ablation technique, is currently used for the treatment of focal hand dystonia.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Globus Pallidus; Humans; Magnetic Resonance Imaging
PubMed: 34376609
DOI: 10.11477/mf.1436204455 -
Cortex; a Journal Devoted To the Study... Oct 2021Models attempting to explain the pathogenesis of adult onset idiopathic focal dystonia often fail to accommodate the entire spectrum of this disorder: the diverse motor...
Models attempting to explain the pathogenesis of adult onset idiopathic focal dystonia often fail to accommodate the entire spectrum of this disorder: the diverse motor and non-motor symptoms, psychiatric and cognitive dysfunction, as well as the sub-clinical, physiological and anatomical, abnormalities. We propose, and present the accumulating evidence, that the adult onset dystonia syndrome is due to disruption in the covert-attentional network, the unconscious sub-cortical mechanism for the detection of potentially environmentally threatening (salient) stimuli, involving the collicular-pulvinar-amygdala network. A critical consideration of this network indicates a number of hypothesis-generated research questions aimed at elucidating the pathogenesis of adult onset dystonia. Given the rarity of adult onset dystonia, international, multidisciplinary, multicentre studies are required to elucidate the prevalence of non-motor symptoms in unaffected relatives, in particular, using temporal discrimination. Research focussing on the non-motor symptoms and the collicular-pulvinar-amygdala pathway may be the key to understanding adult-onset idiopathic focal dystonias (AOIFD) pathophysiology.
Topics: Adult; Amygdala; Attention; Dystonic Disorders; Humans; Prevalence; Pulvinar
PubMed: 34148640
DOI: 10.1016/j.cortex.2021.05.010