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Parkinsonism & Related Disorders Jul 2023Status Dystonicus (SD) represents the most severe end of the spectrum of dystonia. We aimed to explore whether reported features of cases of SD have changed over time. (Review)
Review
BACKGROUND
Status Dystonicus (SD) represents the most severe end of the spectrum of dystonia. We aimed to explore whether reported features of cases of SD have changed over time.
METHODS
A systematic review of cases of SD reported from 2017 to 2023 and comparison of features to data extracted from 2 previous literature reviews (epochs 2012-2017 and pre-2012).
RESULTS
From 53 papers, a total 206 SD episodes in 168 patients were identified from 2017 to 2023. Combining data from all 3 epochs, a total of 339 SD episodes were reported from 277 patients. SD episodes occurred mostly in children, with a trigger identified in 63.4% of episodes, most commonly infection/inflammation. Most reported underlying aetiologies were genetic (e.g. 49.5% between 2017 and 2023), including new associated aetiologies in each epoch. Deep Brain Stimulation (DBS)-related SD increased over time. Neurosurgical interventions were more frequently reported in later epochs. Across the epochs, return to or improvement post SD episode, compared to baseline was reported above 70%. Reported mortality was 4.9% most recently, compared to 11.4% and 7.9%, previously.
CONCLUSIONS
SD episodes reported have more than doubled in the last 5 years. Reports of medication change-induced SD have become less frequent, whilst episodes of DBS-related SD have become more frequent. More dystonia aetiologies, including novel aetiologies have been reported in recent cohorts, reflecting advances in genetic diagnosis. Neurosurgical interventions are increasingly reported in the management of SD episodes, including novel use of intraventricular baclofen. Overall outcomes from SD remain largely unchanged over time. No prospective epidemiological studies of SD were identified.
Topics: Child; Humans; Dystonia; Dystonic Disorders; Neurosurgical Procedures; Prospective Studies; Deep Brain Stimulation; Globus Pallidus
PubMed: 37268557
DOI: 10.1016/j.parkreldis.2023.105438 -
NeuroImage Oct 2022Deep brain stimulation (DBS) is an established treatment for several brain disorders, including Parkinson's disease, essential tremor, dystonia and epilepsy, and an... (Review)
Review
Deep brain stimulation (DBS) is an established treatment for several brain disorders, including Parkinson's disease, essential tremor, dystonia and epilepsy, and an emerging therapeutic tool in many other neurological and psychiatric disorders. The therapeutic efficacy of DBS is dependent on the stimulation target, but its mechanisms of action are still relatively poorly understood. Investigating these mechanisms is challenging, partly because the stimulation devices and electrodes have limited the use of functional MRI in these patients. Molecular brain imaging techniques, such as positron emission tomography (PET) and single photon emission tomography (SPET), offer a unique opportunity to characterize the whole brain effects of DBS. Here, we investigated the direct effects of DBS by systematically reviewing studies performing an `on' vs `off' contrast during PET or SPET imaging. We identified 62 studies (56 PET and 6 SPET studies; 531 subjects). Approximately half of the studies focused on cerebral blood flow or glucose metabolism in patients Parkinson's disease undergoing subthalamic DBS (25 studies, n = 289), therefore Activation Likelihood Estimation analysis was performed on these studies. Across disorders and stimulation targets, DBS was associated with a robust local increase in ligand uptake at the stimulation site and target-specific remote network effects. Subthalamic nucleus stimulation in Parkinson's disease showed a specific pattern of changes in the motor circuit, including increased ligand uptake in the basal ganglia, and decreased ligand uptake in the primary motor cortex, supplementary motor area and cerebellum. However, there was only a handful of studies investigating other brain disorder and stimulation site combinations (1-3 studies each), or specific neurotransmitter systems, preventing definitive conclusions of the detailed molecular effects of the stimulation in these cases.
Topics: Brain; Deep Brain Stimulation; Humans; Ligands; Neuroimaging; Parkinson Disease
PubMed: 35842094
DOI: 10.1016/j.neuroimage.2022.119473 -
Revista de Neurologia Apr 2021Focal hand dystonia in musicians is a task-specific movement disorder characterized by an involuntary loss of control and coordination of finger movements during...
INTRODUCTION
Focal hand dystonia in musicians is a task-specific movement disorder characterized by an involuntary loss of control and coordination of finger movements during instrumental playing.
MATERIALS AND METHODS
Literature searches with the keywords 'dystonia' AND 'musician' AND 'finger' OR 'treatment' OR 'therapy' OR 'rehabilitation' were conducted in PubMed, EMBASE, Cochrane Library and Web of Science to perform the systematic review about the several strategies used to treat dystonia in musicians. The search was performed independently by two authors (R.C. and M.V.) from 6 April 2020 till 6 June 2020. The research identified a total of 423 articles. Seventy-seven selected articles were analysed by the reviewers. Thirty-six publications met the inclusion criteria and were included in the systematic review.
RESULTS
The systematic review was performed to identify the main used treatments for dystonia in musicians. We defined the several techniques to better guide the physician to delineate a rehabilitation protocol adopting the better strategies described in the current literature.
CONCLUSION
This systematic review tried to provide to the reader a complete overview of the literature of all possible different treatments for dystonia in musicians. A correct protocol could permit to improve the motor performance and the quality of life of musicians.
Topics: Dystonic Disorders; Humans
PubMed: 33851716
DOI: 10.33588/rn.7208.2020421 -
The Cochrane Database of Systematic... May 2016This is an update of a Cochrane review first published in 2004, and previously updated in 2009 (no change in conclusions). Cervical dystonia is a frequent and disabling... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
This is an update of a Cochrane review first published in 2004, and previously updated in 2009 (no change in conclusions). Cervical dystonia is a frequent and disabling disorder characterised by painful involuntary head posturing. Botulinum toxin type A (BtA) is usually considered the first line therapy for this condition, although botulinum toxin type B (BtB) is an alternative option.
OBJECTIVES
To compare the efficacy, safety and tolerability of botulinum toxin type B (BtB) versus placebo in people with cervical dystonia.
SEARCH METHODS
We identified studies for inclusion in the review using the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, reference lists of articles and conference proceedings, last run in October 2015. We ran the search from 1977 to 2015. The search was unrestricted by language.
SELECTION CRITERIA
Double-blind, parallel, randomised, placebo-controlled trials (RCTs) of BtB versus placebo in adults with cervical dystonia.
DATA COLLECTION AND ANALYSIS
Two independent authors assessed records, selected included studies, extracted data using a paper pro forma and evaluated the risk of bias. We resolved disagreements by consensus or by consulting a third author. We performed one meta-analysis for the comparison BtB versus placebo. We used random-effects models when there was heterogeneity and fixed-effect models when there was no heterogeneity. In addition, we performed pre-specified subgroup analyses according to BtB doses and BtA previous clinical responsiveness. The primary efficacy outcome was overall improvement on any validated symptomatic rating scale. The primary safety outcome was the number of participants with any adverse event.
MAIN RESULTS
We included four RCTs of moderate overall methodological quality, including 441 participants with cervical dystonia. Three studies excluded participants known to have poorer response to Bt treatment, therefore including an enriched population with a higher probability of benefiting from Bt treatment. None of the trials were independently funded. All RCTs evaluated the effect of a single Bt treatment session using doses between 2500 U and 10,000 U. BtB was associated with an improvement of 14.7% (95% CI 9.8% to 19.5) in the patients' baseline clinical status as assessed by investigators, with reduction of 6.8 points in the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-total score) at week 4 after injection (95% CI 4.54 to 9.01). Mean difference (MD) in TWSTRS-pain score at week 4 was 2.20 (95% CI 1.25 to 3.15). Overall, both participants and clinicians reported an improvement of subjective clinical status. There were no differences between groups in the withdrawals rate due to adverse events or in the proportion of participants with adverse events. However, BtB-treated patients had a 7.65 (95% CI 2.75 to 21.32) and a 6.78 (95% CI 2.42 to 19.05) increased risk of treatment-related dry mouth and dysphagia, respectively. Statistical heterogeneity between studies was low to moderate for most outcomes. All tested dosages were efficacious against placebo without clear-cut evidence of a dose-response gradient. However, duration of effect (time until return to baseline TWSTRS-total score) and risk of dry mouth and dysphagia were greater in the subgroup of participants treated with higher BtB doses. Subgroup analysis showed a higher improvement with BtB among BtA-non-responsive participants, although there were no differences in the effect size between the BtA-responsive and non-responsive subgroups.
AUTHORS' CONCLUSIONS
A single BtB-treatment session is associated with a significant and clinically relevant reduction of cervical dystonia impairment including severity, disability and pain, and is well tolerated, when compared with placebo. However, BtB-treated patients are at an increased risk of dry mouth and dysphagia. There are no data from RCTs evaluating the effectiveness and safety of repeated BtB injection cycles. There are no RCT data to allow us to draw definitive conclusions on the optimal treatment intervals and doses, usefulness of guidance techniques for injection, and impact on quality of life.
Topics: Botulinum Toxins; Botulinum Toxins, Type A; Female; Humans; Male; Middle Aged; Neuromuscular Agents; Randomized Controlled Trials as Topic; Torticollis; Treatment Outcome
PubMed: 27176573
DOI: 10.1002/14651858.CD004315.pub3 -
Movement Disorders Clinical Practice Sep 2014Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few... (Review)
Review
Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic databases up to January 2013. Publications containing descriptions of ADCA clinical features written in several languages were selected initially based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed patients were extracted. Analysis of individual patient data from subjects with movement disorders was performed using the chi-square test and logistic regression. One thousand and sixty-six publications reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755 patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom onset symptom data were available, one third referred a movement disorder as the initial symptom. During overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the absence of ataxia and characterized as responding to dopaminergic medications. Motor complications developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and dystonia were the most common.
PubMed: 30363920
DOI: 10.1002/mdc3.12042 -
BMC Neurology Feb 2024Cervical dystonia is a movement disorder typically characterized by a patterned and twisting movement of sustained or intermittent muscle contractions. Recently, new... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Cervical dystonia is a movement disorder typically characterized by a patterned and twisting movement of sustained or intermittent muscle contractions. Recently, new clinical trials are emerging, highlighting the potential benefit of physiotherapy (PT) on disease outcomes. Thus, the objective of this review is to update the effectiveness of PT on cervical dystonia disease outcomes and subsequently perform a meta-analysis.
METHODS
Interventional studies published in English with adult patients with isolated cervical dystonia following a physiotherapy program were included. Relevant articles were searched in PubMed (MEDLINE), Web of Science, and Scopus. Cochrane and Joanna Briggs Institute risk of bias checklists were used for quality reporting. Meta-analysis was done using Review Manager 5.3 statistical software and a pooled mean difference for pain was presented.
RESULTS
Fourteen articles were included in the review and two articles were included in the meta-analysis. The meta-analysis revealed that PT intervention had a significant effect on pain reduction scale (-5.00, 95% CI -6.26, -3.74) when used as an additional therapy with botulinum toxin (BoNT) injection. Additionally, findings indicate a possible positive effect of PT disease severity, disability, and quality of life.
CONCLUSIONS
Physiotherapy in addition to BoNT is recommended to decrease pain. The findings suggest a reduction of disease severity, disability, and improvement in quality of life. The variety in the type and duration of PT interventions did not allow a clear recommendation of a specific type of PT.
Topics: Adult; Humans; Torticollis; Quality of Life; Botulinum Toxins; Dystonic Disorders; Pain; Physical Therapy Modalities
PubMed: 38302911
DOI: 10.1186/s12883-023-03473-3 -
Journal of Neurology Dec 2019Dystonia is characterised by sustained muscular contractions frequently producing repetitive, twisting and patterned movements. The primary aim of this systematic review...
OBJECTIVE
Dystonia is characterised by sustained muscular contractions frequently producing repetitive, twisting and patterned movements. The primary aim of this systematic review was to establish how quality of life (QoL) is affected in idiopathic focal, multifocal and segmental dystonia. This review aimed to evaluate variations in QoL between different subtypes of dystonia, identify the determinants of QoL and assess the effects of different treatments on QoL.
METHODOLOGY
A systematic computer-based literature search was conducted using the PubMed database to search for papers on QoL in idiopathic focal, segmental, multifocal and generalized dystonia. We identified 75 studies meeting our inclusion criteria. Information was extracted regarding prevalence, demographics and response to treatment where indicated.
RESULTS
This review revealed QoL to be a significant yet often overlooked issue in idiopathic dystonia. Data consistently showed that dystonia has a negative effect on QoL in patients compared to healthy controls, when measured using disease-specific and generic QoL measures. The majority of studies (n = 25) involved patients with cervical dystonia, followed by benign-essential blepharospasm (n = 10). Along with the beneficial effect to the dystonia symptoms, treatment using Botulinum Toxin and Deep Brain Stimulation is also effective in improving overall QoL across the majority of subtypes.
CONCLUSION
The findings demonstrate that patients' QoL should routinely be assessed and monitored, as this may affect subsequent management. Further research will allow for more robust management of factors contributing to impaired QoL, aside from the physical defects found in dystonia.
Topics: Dystonic Disorders; Humans; Quality of Life
PubMed: 30460447
DOI: 10.1007/s00415-018-9119-x -
Journal of Autism and Developmental... Jan 2019Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A...
Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail.
Topics: Angelman Syndrome; Autistic Disorder; Comorbidity; Humans; Movement Disorders; Prevalence; Rett Syndrome
PubMed: 30014250
DOI: 10.1007/s10803-018-3658-y -
Medical Problems of Performing Artists Jun 2018The purpose of this systematic review was to evaluate the effectiveness of neuromuscular re-education programs on reducing abnormal movements during instrument play in... (Review)
Review
OBJECTIVE
The purpose of this systematic review was to evaluate the effectiveness of neuromuscular re-education programs on reducing abnormal movements during instrument play in musicians with focal hand dystonia (FHD).
METHODS
A systematic literature search of published articles was performed. Databases searched included MEDLINE, CINAHL, PsycINFO, OTseeker, and the Cochrane Library. Additional articles were identified from reference lists. Studies meeting inclusion criteria were independently assessed by the two coauthors for eligibility and quality of methods. Study data were summarized in a critical appraisal chart.
RESULTS
Nine studies met the inclusion criteria for review, including 1 non-randomized two-group study, 6 single-group repeated measures studies, and 2 single-subject studies. The studied neuromuscular re-education programs included constraint-induced therapy plus motor control retraining, sensory motor retuning, learning- based sensorimotor training, and slow-down exercise.
CONCLUSIONS
The results of this review indicate there is moderate evidence to support the effectiveness of neuromuscular re-education programs on reducing abnormal movements during instrument play in musicians with FHD. However, additional research should evaluate the effectiveness of neuromuscular re-education programs using reliable and valid outcome measures, as well as study methods which provide higher levels of evidence.
Topics: Dystonic Disorders; Humans; Music; Occupational Diseases; Physical Therapy Modalities
PubMed: 29868689
DOI: 10.21091/mppa.2018.2014 -
The Cochrane Database of Systematic... Jan 2019Dystonia is a painful and disabling disorder, characterised by painful, involuntary posturing of the affected body region(s). Deep brain stimulation is an intervention... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Dystonia is a painful and disabling disorder, characterised by painful, involuntary posturing of the affected body region(s). Deep brain stimulation is an intervention typically reserved for severe and drug-refractory cases, although uncertainty exists regarding its efficacy, safety, and tolerability.
OBJECTIVES
To compare the efficacy, safety, and tolerability of deep brain stimulation (DBS) versus placebo, sham intervention, or best medical care, including botulinum toxin and resective or lesional surgery, in adults with dystonia.
SEARCH METHODS
We identified studies by searching the CENTRAL, MEDLINE, Embase, three other databases, four clinical trial registries, four grey literature databases, and reference lists of included articles. We ran the last search of all elements of the search strategy, with no language restrictions, on 29 May 2018.
SELECTION CRITERIA
Double-blind, parallel, randomised, controlled trials (RCTs) comparing DBS with sham stimulation, best medical care, or placebo in adults with dystonia.
DATA COLLECTION AND ANALYSIS
Two independent review authors assessed records, selected included studies, extracted data onto a standardised (or prespecified) data extraction form, and evaluated the risk of bias. We resolved disagreements by consensus or by consulting a third review author. We conducted meta-analyses using a random-effects model, to estimate pooled effects and corresponding 95% confidence intervals (95% CI). We assessed the quality of the evidence with GRADE methods. The primary efficacy outcome was symptom improvement on any validated symptomatic rating scale, and the primary safety outcome was adverse events.
MAIN RESULTS
We included two RCTs, enrolling a total of 102 participants. Both trials evaluated the effect of DBS on the internal globus pallidus nucleus, and assessed outcomes after three and six months of stimulation. One of the studies included participants with generalised and segmental dystonia; the other included participants with focal (cervical) dystonia. We assessed both studies at high risk for performance and for-profit bias. One study was retrospectively registered with a clinical trial register, we judged the second at high risk of detection bias.Low-quality evidence suggests that DBS of the internal globus pallidus nucleus may improve overall cervical dystonia-related symptoms (mean difference (MD) 9.8 units, 95% CI 3.52 to 16.08 units; 1 RCT, 59 participants), cervical dystonia-related functional capacity (MD 3.8 units, 95% CI 1.41 to 6.19; 1 RCT, 61 participants), and mood at three months (MD 3.1 units, 95% CI 0.73 to 5.47; 1 RCT, 61 participants).Low-quality evidence suggests that In people with cervical dystonia, DBS may slightly improve the overall clinical status (MD 2.3 units, 95% CI 1.15 to 3.45; 1 RCT, 61 participants). We are uncertain whether DBS improves quality of life in cervical dystonia (MD 3 units, 95% CI -7.71 to 13.71; 1 RCT, 57 participants; very low-quality evidence), or emotional state (MD 2.4 units, 95% CI -6.2 to 11.00; 1 RCT, 56 participants; very low-quality evidence).Low-quality evidence suggests that DBS of the internal globus pallidus nucleus may improve generalised or segmental dystonia-related symptoms (MD 14.4 units, 95% CI 8.0 to 20.8; 1 RCT, 40 participants), overall clinical status (MD 3.5 units, 95% CI 2.33 to 4.67; 1 RCT, 37 participants), physical functioning-related quality of life (MD 6.3 units, 95% CI 1.06 to 11.54; 1 RCT, 33 participants), and overall dystonia-related functional capacity at three months (MD 3.1 units, 95% CI 1.71 to 4.48; 1 RCT, 39 participants). We are uncertain whether DBS improves physical functioning-related quality of life (MD 5.0 units, 95% CI -2.14 to 12.14, 1 RCT, 33 participants; very low-quality evidence), or mental health-related quality of life (MD -4.6 units, 95% CI -11.26 to 2.06; 1 RCT, 30 participants; very low-quality evidence) in generalised or segmental dystonia.We pooled outcomes related to safety and tolerability, since both trials used the same intervention and comparison. We found very low-quality evidence of inconclusive results for risk of adverse events (relative risk (RR) 1.58, 95% 0.98 to 2.54; 2 RCTs, 102 participants), and tolerability (RR 1.86, 95% CI 0.16 to 21.57; 2 RCTs,102 participants).
AUTHORS' CONCLUSIONS
DBS of the internal globus pallidus nucleus may reduce symptom severity and improve functional capacity in adults with cervical, segmental or generalised moderate to severe dystonia (low-quality evidence), and may improve quality of life in adults with generalised or segmental dystonia (low-quality evidence). We are uncertain whether the procedure improves quality of life in cervical dystonia (very low-quality evidence). We are also uncertain about the safety and tolerability of the procedure in adults with either cervical and generalised, or segmental dystonia (very-low quality evidence).We could draw no conclusions for other populations with dystonia (i.e. children and adolescents, and adults with other types of dystonia), or for other DBS protocols (i.e. other target nuclei or stimulation paradigms). Further research is needed to establish the long-term efficacy and safety of DBS of the internal globus pallidus nucleus.
Topics: Adolescent; Adult; Age Factors; Child; Deep Brain Stimulation; Dystonic Disorders; Globus Pallidus; Humans; Quality of Life; Randomized Controlled Trials as Topic; Torticollis
PubMed: 30629283
DOI: 10.1002/14651858.CD012405.pub2