-
Annals of Indian Academy of Neurology 2022Oromandibular dystonia (OMD) is a clinical problem which is commonly encountered in the practice of movement disorders. OMD results from a variety of genetic and...
Oromandibular dystonia (OMD) is a clinical problem which is commonly encountered in the practice of movement disorders. OMD results from a variety of genetic and acquired etiologies and can occur as an isolated manifestation, or as part of an isolated generalized or a combined dystonia syndrome. There are only very few systematic reviews on this condition which often causes significant disability. We review here the etiology, clinical features, diagnostic approach and management of OMD.
PubMed: 35342238
DOI: 10.4103/aian.aian_242_21 -
Journal of Neurology, Neurosurgery, and... Jun 2022Functional movement disorder (FMD) is a common manifestation of functional neurological disorder presenting with diverse phenotypes such as tremor, weakness and gait... (Meta-Analysis)
Meta-Analysis
Functional movement disorder (FMD) is a common manifestation of functional neurological disorder presenting with diverse phenotypes such as tremor, weakness and gait disorder. Our current understanding of the basic epidemiological features of this condition is unclear. We aimed to describe and examine the relationship between age at onset, phenotype and gender in FMD in a large meta-analysis of published and unpublished individual patient cases. An electronic search of PubMed was conducted for studies from 1968 to 2019 according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Individual patient data were collected through a research network. We described the distribution of age of onset and how this varied by gender and motor phenotype. A one-stage meta-analysis was performed using multilevel mixed-effects linear regression, including random intercepts for country and data source. A total of 4905 individual cases were analysed (72.6% woman). The mean age at onset was 39.6 years (SD 16.1). Women had a significantly earlier age of onset than men (39.1 years vs 41.0 years). Mixed FMD (23.1%), tremor (21.6%) and weakness (18.1%) were the most common phenotypes. Compared with tremor (40.7 years), the mean ages at onset of dystonia (34.5 years) and weakness (36.4 years) were significantly younger, while gait disorders (43.2 years) had a significantly later age at onset. The interaction between gender and phenotype was not significant. FMD peaks in midlife with varying effects of gender on age at onset and phenotype. The data gives some support to 'lumping' FMD as a unitary disorder but also highlights the value in 'splitting' into individual phenotypes where relevant.
Topics: Conversion Disorder; Dystonia; Female; Humans; Movement Disorders; Phenotype; Tremor
PubMed: 35217516
DOI: 10.1136/jnnp-2021-328462 -
Brain and Behavior Feb 2022Japanese encephalitis (JE) is a potentially fatal viral infection with a wide range of manifestations and can also present with a variety of movement disorders (MD)... (Review)
Review
BACKGROUND
Japanese encephalitis (JE) is a potentially fatal viral infection with a wide range of manifestations and can also present with a variety of movement disorders (MD) including dystonia. Dystonic features in JE are uncommon. Here, we have tried to summarize the clinical features and management of dystonia among JE patients with a comprehensive literature search.
METHODS
Various databases, including PubMed, Embase, and Google Scholar, were searched against the predefined criteria using suitable keywords combination and boolean operations. Relevant information from observational and case studies was extracted according to the author, dystonic features, radiological changes in the brain scans, treatment options, and outcome wherever provided.
RESULT
We identified 19 studies with a total of 1547 JE patients, the diagnosis of which was confirmed by IgM detection in serum and/or cerebrospinal fluid in the majority of the patients (88.62%). 234 (15.13%) of JE patients had dystonia with several types of focal dystonia being present in 131 (55.98%) either alone or in combination. Neuroimaging showed predominant involvement of thalami, basal ganglia, and brainstem. Oral medications including anticholinergics, GABA agonists, and benzodiazepines followed by botulinum toxin were the most common treatment modalities.
CONCLUSION
Dystonia can be a disabling consequence of JE, and various available medical therapies can significantly improve the quality of life. Owing to insufficient studies on the assessment of dystonia associated with JE, longitudinal studies with a larger number of patients are warranted to further clarify the clinical course, treatment, and outcome of dystonia.
Topics: Dystonia; Dystonic Disorders; Encephalitis, Japanese; Humans; Movement Disorders; Quality of Life
PubMed: 35025122
DOI: 10.1002/brb3.2496 -
Movement Disorders Clinical Practice Jan 2022Early evidence suggests good response to pallidal deep brain stimulation (DBS) in DYT-. (Review)
Review
BACKGROUND
Early evidence suggests good response to pallidal deep brain stimulation (DBS) in DYT-.
OBJECTIVES
We aimed to conduct a systematic review and meta-analysis to assess outcomes and identify predictors of good outcome following GPi-DBS in DYT-.
METHODS
We searched MEDLINE, Cochrane and MDS-abstracts databases using the MeSH terms " and DYT28". We included studies that reported objective outcomes following GPi-DBS in DYT-. The BFMDRS-M (Burke-Fahn-Marsden Dystonia Rating Scale- Movement) total scores pre- and post-surgery were used to quantify outcomes. We calculated pooled effects using a random effects meta-analysis and used meta-regression to identify potential effect modifiers. Multiple linear regression using individual patient data was used to identify predictors of good outcome (>50% improvement from baseline on BFMDRS-M).
RESULTS
Initial searches screened 132 abstracts of which 34 full-text articles were identified to be of potential interest. Ten studies reporting 42 individual patients, met the inclusion/exclusion criteria and were included in the final review. The mean age at onset was 6.4 ± 5.7 years and 40% were male. The median follow-up was 12 months (range: 1-264 months). GPi-DBS resulted in median BFMDRS-M improvement of 42.7% (range: -103.5% to 95.9%) postoperatively. Pooled proportion of patients experiencing clinical improvement >50% on BFMDRS-M was 41% (95% CI: 27%-57%). Male gender [β: 22.6, 95% CI: 8.0-37.3, = 0.004), and higher pre-operative BFMDRS-M score [β: 0.62, 95% CI: 0.36-0.87, < 0.001) were independently associated with better outcome.
CONCLUSION
-associated dystonia responds effectively to pallidal stimulation. The outcome is better in males and those with more severe dystonia at baseline.
PubMed: 35005062
DOI: 10.1002/mdc3.13374 -
Frontiers in Human Neuroscience 2021Deep brain stimulation (DBS) is a typical intervention treating drug-refractory dystonia. Currently, the selection of the better target, the GPi or STN, is debatable.... (Review)
Review
Deep brain stimulation (DBS) is a typical intervention treating drug-refractory dystonia. Currently, the selection of the better target, the GPi or STN, is debatable. The outcomes of DBS treating dystonia classified by body distribution and etiology is also a popular question. To comprehensively compare the efficacy, quality of life, mood, and adverse effects (AEs) of GPi-DBS vs. STN-DBS in dystonia as well as in specific types of dystonia classified by body distribution and etiology. PubMed, Embase, the Cochrane Library, and Google Scholar were searched to identify studies of GPi-DBS and STN-DBS in populations with dystonia. The efficacy, quality of life, mood, and adverse effects were quantitatively compared. Meta-regression analyses were also performed. This analysis has been registered in PROSPERO under the number CRD42020146145. Thirty five studies were included in the main analysis, in which 319 patients underwent GPI-DBS and 113 patients underwent STN-DBS. The average follow-up duration was 12.48 months (range, 3-49 months). The GPI and STN groups were equivalent in terms of efficacy, quality of life, mood, and occurrence of AEs. The focal group demonstrated significantly better disability symptom improvement ( = 0.012) than the segmental and generalized groups but showed less SF-36 enhancement than the segmental group ( < 0.001). The primary groups exhibited significantly better movement and disability symptom improvements than the secondary non-hereditary group ( < 0.005), which demonstrated only disability symptom improvement compared with the secondary hereditary group ( < 0.005). The primary hereditary and idiopathic groups had a significantly lower frequency of AEs than the secondary non-hereditary group ( < 0.005). The correlation between disability symptom improvement and movement symptom improvement was also significant ( < 0.05). GPi-DBS and STN-DBS were both safe and resulted in excellent improvement in efficacy and quality of life in patients with dystonia. Compared with patients with segmental dystonia, patients with focal dystonia demonstrated better improvement in dystonia symptoms but less enhancement of quality of life. Those with primary dystonia had a better response to DBS in terms of efficacy than those with secondary dystonia. Patients who exhibit a significant improvement in movement symptoms might also exhibit excellent improvement in disability symptoms.
PubMed: 34899219
DOI: 10.3389/fnhum.2021.757579 -
Psychiatry and Clinical Neurosciences Dec 2021This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). (Review)
Review
AIM
This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT).
METHOD
Using PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes.
RESULTS
Following the thematic analysis, six themes emerged: (i) clinical features of abnormal movement behaviors; (ii) mutational profile and its impact on movement disorders; (iii) symptoms and stressors that impact on movement disorders; (iv) possible underlying neurobiological mechanisms; (v) quality of life and movement disorders; and (vi) treatment of movement disorders. Current guidelines for managing movement disorders in general were then reviewed to provide possible treatment recommendations for RTT.
CONCLUSION
Our study offers an enriched data set for clinical investigations and treatment of fine and gross motor issues in RTT. A detailed understanding of genotype-phenotype relationships of movement disorders allows for more robust genetic counseling for families but can also assist healthcare professionals in terms of monitoring disease progression in RTT. The synthesis also showed that environmental enrichment would be beneficial for improving some aspects of movement disorders. The cerebellum, basal ganglia, alongside dysregulation of the cortico-basal ganglia-thalamo-cortical loop, are likely anatomical targets. A review of treatments for movement disorders also helped to provide recommendations for treating and managing movement disorders in patients with RTT.
Topics: Animals; Humans; Movement Disorders; Mutation; Quality of Life; Rett Syndrome
PubMed: 34472659
DOI: 10.1111/pcn.13299 -
Parkinsonism & Related Disorders Aug 2021To guide the neurologist and neurophysiologist with interpretation and implementation of clinical neurophysiological examinations, we aim to provide a systematic review... (Comparative Study)
Comparative Study
INTRODUCTION
To guide the neurologist and neurophysiologist with interpretation and implementation of clinical neurophysiological examinations, we aim to provide a systematic review on evidence of electrophysiological features used to differentiate between hyperkinetic movement disorders.
METHODS
A PRISMA systematic search and QUADAS quality evaluation has been performed in PubMed to identify diagnostic test accuracy studies comparing electromyography and accelerometer features. We included papers focusing on tremor, dystonia, myoclonus, chorea, tics and ataxia and their functional variant. The features were grouped as 1) basic features (e.g., amplitude, frequency), 2) the influence of tasks on basic features (e.g., entrainment, distraction), 3) advanced analyses of multiple signals, 4) and diagnostic tools combining features.
RESULTS
Thirty-eight cross-sectional articles were included discussing tremor (n = 28), myoclonus (n = 5), dystonia (n = 5) and tics (n = 1). Fifteen were rated as 'high quality'. In tremor, the basic and task-related features showed great overlap between clinical tremor syndromes, apart from rubral and enhanced physiological tremor. Advanced signal analyses were best suited for essential, parkinsonian and functional tremor, and cortical, non-cortical and functional jerks. Combinations of electrodiagnostic features could identify essential, enhanced physiological and functional tremor.
CONCLUSION
Studies into the diagnostic accuracy of electrophysiological examinations to differentiate between hyperkinetic movement disorders have predominantly been focused on clinical tremor syndromes. No single feature can differentiate between them all; however, a combination of analyses might improve diagnostic accuracy.
Topics: Accelerometry; Cross-Sectional Studies; Diagnosis, Differential; Dystonia; Electromyography; Humans; Hyperkinesis; Movement Disorders; Myoclonus; Neurophysiology; Tics; Tremor
PubMed: 34362669
DOI: 10.1016/j.parkreldis.2021.07.033 -
Pain Physician Jul 2021Complex regional pain syndrome is a rare, neuropathic disorder that affects fewer than 200,000 individuals in the United States annually. Current treatments often focus...
BACKGROUND
Complex regional pain syndrome is a rare, neuropathic disorder that affects fewer than 200,000 individuals in the United States annually. Current treatments often focus on pain management and fall short of relieving symptoms of pain and dystonia in patients.
OBJECTIVE
The goal of this systematic qualitative review is to evaluate the evidence for the use of low-dose naltrexone in the treatment of chronic pain syndromes.
STUDY DESIGN
This is a systematic review.
METHODS
PubMed, Embase, and Web of Science were searched for articles containing the keywords "low-dose naltrexone" AND ("pain" OR "chronic pain" OR "fibromyalgia" OR "complex regional pain syndrome" OR "neuropathic pain" OR "nociceptive pain") between 1950 and July 17, 2020. A total of 30 publications were systematically reviewed. Exclusion criteria were articles that were unavailable in English, focused on acute pain only, and evaluated only animal models. Case studies were included for the purposes of our qualitative review.
RESULTS
Out of 29 articles, we reviewed 11 prospective studies, 10 case studies, 3 systematic reviews, 2 retrospective studies, 2 simulation models, and one combination study. Articles focused on chronic pain syndromes as well as painful rheumatologic disorders and neurological disorders. We found that low-dose naltrexone treatment was positively associated with symptom relief in patients experiencing chronic pain, dystonia, and sleep disturbances.
LIMITATIONS
Due to the limited number of available articles focusing on the treatment of complex regional pain syndrome with low-dose naltrexone, the majority of studies analyzed focused on other chronic pain syndromes.
CONCLUSIONS
There is a need for additional prospective and interventional studies addressing the use of low-dose naltrexone in the treatment of complex regional pain syndrome symptoms.
Topics: Animals; Chronic Pain; Fibromyalgia; Humans; Naltrexone; Prospective Studies; Retrospective Studies; United States
PubMed: 34213865
DOI: No ID Found -
Journal of the Formosan Medical... Jan 2022A heterozygous three-nucleotide (GAG) in-frame deletion in the TOR1A gene causes the rare disease, dystonia (DYT1), which typically presents as focal limb dystonia...
BACKGROUND/PURPOSE
A heterozygous three-nucleotide (GAG) in-frame deletion in the TOR1A gene causes the rare disease, dystonia (DYT1), which typically presents as focal limb dystonia during adolescence, then spreads to other limbs. This study investigated the frequency and clinical features of DYT1 in a Taiwanese dystonia cohort.
METHODS
We performed targeted next generation sequencing in 318 patients with primary dystonia. We identified one DYT1 family with various types of dystonia, and we described the clinical presentations observed in this family during a 30-year follow-up. We compared the clinical characteristics to those reported in previous studies on DYT1 from 2000 to 2020.
RESULTS
Among 318 patients, we identified only one DYT1 patient (0.3%) with an autosomal dominant family history of dystonia. The proband was a 43-year-old man that experienced progressive onset of focal lower limb dystonia from age 11 years. The disease spread caudal-rostrally to the upper limbs and cervical muscles. Prominent cervical dystonia was noted during follow-up, which was an atypical presentation of DYT1. Clinical assessments of other family members showed intrafamily variability. The proband's father and an affected sibling demonstrated only mild right-hand writer's cramp. A systematic review of previously reported DTY1 cases showed that Asian patients had a higher frequency of cervical dystonia (44.8%) than groups of Ashkenazi Jews (35%) and Non-Jewish Caucasians (30.5%) (P = 0.04).
CONCLUSION
Our findings revealed that DYT1 is rare in a Taiwanese dystonia cohort. The presentation of marked cervical dystonia could be the main feature of Asian patients with DYT1.
Topics: Adult; Child; Dystonic Disorders; Genetic Diseases, X-Linked; Humans; Male; Molecular Chaperones; Taiwan
PubMed: 34092466
DOI: 10.1016/j.jfma.2021.05.017 -
Neurologia I Neurochirurgia Polska 2021Deep brain stimulation (DBS) therapy for Parkinson's Disease (PD) and dystonia is associated with the possibility of both minor and major complications. One possible...
INTRODUCTION
Deep brain stimulation (DBS) therapy for Parkinson's Disease (PD) and dystonia is associated with the possibility of both minor and major complications. One possible side effect is the depletion of implantable pulse generator (IPG) battery and the associated sudden recurrence of PD or dystonia symptoms, which can be potentially life-threatening. Delayed or postponed outpatient visits due to COVID -19 may be a risk factor of battery end-of-life consequences.
OBJECTIVE
To analyse the clinical outcomes in reported PD and dystonia patients treated with DBS, who, as a result of the sudden depletion of the neurostimulator battery, developed life-threatening symptoms.
MATERIALS AND METHODS
The databases of PubMed, Scopus, EMBASE and Google Scholar were searched using pre-established criteria.
RESULTS
A total of 244 articles was found, of which 12 met the adopted criteria. Selected papers presented a total of 17 case reports of DBS-treated patients - 11 with PD, and six with dystonia - who had depleted IPG batteries and due to rapid worsening of PD/dystonia symptoms required urgent hospital admission. IPG battery replacement was the only effective treatment in the majority of cases.
CONCLUSIONS
IPG battery depletion can result in fatal outcomes. Sudden recurrence of PD or dystonia symptoms in patients treated by DBS can be potentially life-threatening, so scheduling the replacement of a discharged IPG battery should not be postponed. The COVID-19 pandemic should alert staff at emergency, neurology and movement disorders wards not to postpone the visits of patients with an implanted DBS system.
Topics: COVID-19; Deep Brain Stimulation; Dystonia; Electrodes, Implanted; Humans; Pandemics; Parkinson Disease; SARS-CoV-2
PubMed: 34056704
DOI: 10.5603/PJNNS.a2021.0041