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Movement Disorders : Official Journal... Aug 2021
Topics: Dystonia; Dystonic Disorders; Humans; Serotonin
PubMed: 34196413
DOI: 10.1002/mds.28708 -
Neurology India 2020Deep brain stimulation (DBS) is currently the preferred surgical treatment for various movement disorders. Pallidotomy is an effective procedure for patients with...
BACKGROUND
Deep brain stimulation (DBS) is currently the preferred surgical treatment for various movement disorders. Pallidotomy is an effective procedure for patients with dystonia and Parkinson's disease and was the surgical treatment of choice before the advent of DBS. However, it can be the preferred modality in immunocompromised patients and those patients who cannot afford DBS due to financial constraints. Hypophonia, dysarthria and dysphagia are the most significant complications of bilateral pallidotomy.
OBJECTIVE
The aim of this study was to present the surgical technique and nuances involved in bilateral simultaneous pallidotomy in a patient with generalized dystonia.
PROCEDURE
A 30-year male with primary generalized dystonia presented to us with preoperative Burke-Fahn-Marsden (BFM) Dystonia Rating Scale of 24. After acquiring preoperative volumetric 3T MRI and stereotactic CT, bilateral pallidotomy was done under general anesthesia. There were no procedure related complications.
RESULTS
At two months of follow-up, his BFM dystonia score improved from 24 to 4.5.
CONCLUSION
Appropriately acquired volumetric MRI, meticulous planning and meticulously performed surgical procedure can help in achieving good outcome and minimize the complications.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Globus Pallidus; Humans; Male; Movement Disorders; Pallidotomy; Treatment Outcome
PubMed: 33318369
DOI: 10.4103/0028-3886.302460 -
Movement Disorders : Official Journal... May 2022In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement... (Review)
Review
In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease-causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
Topics: Dystonia; Dystonic Disorders; Humans; Movement Disorders; Parkinson Disease; Parkinsonian Disorders; Phenotype
PubMed: 35481685
DOI: 10.1002/mds.28982 -
Journal of Neural Transmission (Vienna,... Apr 2021Dystonia is a clinically diverse disorder, characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements and/or... (Review)
Review
Dystonia is a clinically diverse disorder, characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements and/or postures. Accurate clinical diagnosis is tantamount to effective dystonia management. Current guidelines in the treatments of dystonia, including oral therapy, are prescribed to improve symptoms and to restore functional capacity. Identifying treatable causes from co-existing phenomenologies is relevant to provide the most optimal and disease-specific medications. In other forms of dystonia, genetic factors may affect outcome. Moreover, proper selection of patients, early initiation of medications and customized drug titration are keys to increasing the chances of success when using oral therapies for dystonia. Treatment of dystonia primarily involves agents that target dopamine and acetylcholine receptors. Other drugs used include benzodiazepines, baclofen, antiepileptics, some antipsychotics drugs and antihistamine, with different levels of evidence of effectiveness. Unfortunately, most of the widely used drugs have low levels of evidence and are primarily based on anecdotal experiences. Finally, other adjunctive therapeutic strategies are often necessary to complement oral therapy.
Topics: Baclofen; Dystonia; Dystonic Disorders; Humans; Muscle Contraction
PubMed: 33877451
DOI: 10.1007/s00702-021-02339-7 -
Current Neurology and Neuroscience... Nov 2022To review recent literature evaluating psychiatric and cognitive symptoms in dystonia, the two non-motor symptom groups most frequently evaluated in dystonia research... (Review)
Review
PURPOSE OF REVIEW
To review recent literature evaluating psychiatric and cognitive symptoms in dystonia, the two non-motor symptom groups most frequently evaluated in dystonia research and recognised in clinical practice.
RECENT FINDINGS
Recent work has embedded clinical recognition of psychiatric symptoms in dystonia, with depressive and anxiety-related symptoms routinely observed to be the most common. Less explored symptoms, such as self-harm, suicidal ideation, and substance abuse, represent newer areas of investigation, with initial work suggesting higher rates than the background population. Investigation of cognitive function has provided less consistent results, both within individual dystonia subtypes and across the spectrum of dystonias, partly reflecting the heterogeneity in approaches to assessment. However, recent work indicates impairments of higher cognitive function, e.g. social cognition, and disrupted visual and auditory sensory processing. Dystonia demonstrates psychiatric and cognitive symptom heterogeneity, with further work needed to recognise endophenotypes and improve diagnostic accuracy, symptom recognition, and management.
Topics: Humans; Dystonia; Dystonic Disorders; Mental Disorders; Cognition
PubMed: 36201146
DOI: 10.1007/s11910-022-01233-3 -
Advances in Neurobiology 2023Functional dystonia, the second most common functional movement disorder, is characterized by acute or subacute onset of fixed limb, truncal, or facial posturing,... (Review)
Review
Functional dystonia, the second most common functional movement disorder, is characterized by acute or subacute onset of fixed limb, truncal, or facial posturing, incongruent with the action-induced, position-sensitive, and task-specific manifestations of dystonia. We review neurophysiological and neuroimaging data as the basis for a dysfunctional networks in functional dystonia. Reduced intracortical and spinal inhibition contributes to abnormal muscle activation, which may be perpetuated by abnormal sensorimotor processing, impaired selection of movements, and hypoactive sense of agency in the setting of normal movement preparation but abnormal connectivity between the limbic and motor networks. Phenotypic variability may be related to as-yet undefined interactions between abnormal top-down motor regulation and overactivation of areas implicated in self-awareness, self-monitoring, and active motor inhibition such as the cingulate and insular cortices. While there remain many gaps in knowledge, further combined neurophysiological and neuroimaging assessments stand to inform the neurobiological subtypes of functional dystonia and the potential therapeutic applications.
Topics: Humans; Dystonia; Dystonic Disorders; Movement; Neuroimaging
PubMed: 37338701
DOI: 10.1007/978-3-031-26220-3_9 -
Journal of Neural Transmission (Vienna,... Apr 2021Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized dystonia with predominant... (Review)
Review
Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized dystonia with predominant craniocervical symptoms; and is associated with mostly deleterious missense variation in the THAP1 gene. De novo and inherited missense and protein truncating variation in GNAL as well as primarily missense variation in ANO3 cause isolated focal and/or segmental dystonia with preference for the upper half of the body and older ages at onset. The GAG deletion in TOR1A is associated with generalized dystonia with onset in childhood in the lower limbs. Rare variation in these genes causes monogenic sporadic and inherited forms of isolated dystonia; common variation may confer risk and imply that dystonia is a polygenic trait in a subset of cases. Although candidate gene screens have been successful in the past in detecting gene-disease associations, recent application of whole-genome and whole-exome sequencing methods enable unbiased capture of all genetic variation that may explain the phenotype. However, careful variant-level evaluation is necessary in every case, even in genes that have previously been associated with disease. We review the genetic architecture and phenotype of DYT-THAP1, DYT-GNAL, DYT-ANO3, and DYT-TOR1A by collecting case reports from the literature and performing variant classification using pathogenicity criteria.
Topics: Aged; Anoctamins; Apoptosis Regulatory Proteins; DNA-Binding Proteins; Dystonia; Dystonic Disorders; Humans; Middle Aged; Molecular Chaperones; Mutation
PubMed: 33247415
DOI: 10.1007/s00702-020-02268-x -
Clinical Neurophysiology : Official... Aug 2022Hyperkinesias are heterogeneous involuntary movements that significantly differ in terms of clinical and semeiological manifestations, including rhythm, regularity,... (Review)
Review
Hyperkinesias are heterogeneous involuntary movements that significantly differ in terms of clinical and semeiological manifestations, including rhythm, regularity, speed, duration, and other factors that determine their appearance or suppression. Hyperkinesias are due to complex, variable, and largely undefined pathophysiological mechanisms that may involve different brain areas. In this chapter, we specifically focus on dystonia, chorea and hemiballismus, and other dyskinesias, specifically, levodopa-induced, tardive, and cranial dyskinesia. We address the role of neurophysiological studies aimed at explaining the pathophysiology of these conditions. We mainly refer to human studies using surface and invasive in-depth recordings, as well as spinal, brainstem, and transcortical reflexology and non-invasive brain stimulation techniques. We discuss the extent to which the neurophysiological abnormalities observed in hyperkinesias may be explained by pathophysiological models. We highlight the most relevant issues that deserve future research efforts. The potential role of neurophysiological assessment in the clinical context of hyperkinesia is also discussed.
Topics: Chorea; Dyskinesias; Dystonia; Dystonic Disorders; Humans; Levodopa
PubMed: 35785630
DOI: 10.1016/j.clinph.2022.05.014 -
Current Neurology and Neuroscience... Jul 2021Tremor is an important phenotypic feature of dystonia with wide variability in the reported prevalence ranging from 14 to 86.67%. This variability may be due to the... (Review)
Review
PURPOSE OF REVIEW
Tremor is an important phenotypic feature of dystonia with wide variability in the reported prevalence ranging from 14 to 86.67%. This variability may be due to the types of dystonia patients reported in different studies. This article reviews research articles reporting tremor in primary monogenic dystonia.
RECENT FINDINGS
We searched the MDS gene data and selected all research articles reporting tremor in primary monogenic dystonia. Tremor was reported in nine dystonia genes, namely DYT-HPCA, DYT-ANO3, DYT-KCTD17, DYT-THAP1, DYT-PRKRA, DYT-GNAL, DYT-TOR1A, DYT-KMT2B, and DYT-SGCE in the descending order of its frequency. HPCA gene mutation is rare, but all reported patients had tremor. Similarly, tremor was reported in eight genes associated with dystonia parkinsonism, namely DYT-SLC6A3, DYT-TH, DYT-SPR, DYT-PTS, DYT-GCH1, DYT-TAF1, DYT-QDPR, and DYT-SCL30A10 in the descending order of its prevalence. DYT-HPCA and DYT-ANO3 gene showed the highest prevalence of tremor in isolated dystonia, and DYT-SLC6A3 has the highest prevalence of tremor in combined dystonia.
Topics: Anoctamins; Apoptosis Regulatory Proteins; DNA-Binding Proteins; Dopamine Plasma Membrane Transport Proteins; Dystonia; Dystonic Disorders; Humans; Molecular Chaperones; Mutation; Tremor
PubMed: 34264428
DOI: 10.1007/s11910-021-01135-w -
Developmental Medicine and Child... Oct 2023Hypertonia in childhood may arise because of a variable combination of neuronal and non-neuronal factors. Involuntary muscle contraction may be due to spasticity or... (Review)
Review
Hypertonia in childhood may arise because of a variable combination of neuronal and non-neuronal factors. Involuntary muscle contraction may be due to spasticity or dystonia, which represent disorders of the spinal reflex arch and of central motor output respectively. Whilst consensus definitions for dystonia have been established, definitions of spasticity vary, highlighting the lack of a single unifying nomenclature in the field of clinical movement science. The term spastic dystonia refers to involuntary tonic muscle contraction in the context of an upper motor neuron (UMN) lesion. This review considers the utility of the term spastic dystonia, exploring our understanding of the pathophysiology of dystonia and the UMN syndrome. An argument is advanced that spastic dystonia is a valid construct that warrants further exploration. WHAT THIS PAPER ADDS: There is no single universally accepted definitions for terms commonly used to describe motor disorders. Spasticity and dystonia are phenomenologically and pathophysiologically distinct entities. Spastic dystonia represents a subset of dystonia, but with pathophysiological mechanisms more in common with spasticity.
Topics: Humans; Muscle Spasticity; Dystonia; Muscle Hypertonia; Motor Neuron Disease; Dystonic Disorders; Locomotion
PubMed: 36940234
DOI: 10.1111/dmcn.15582