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Toxicon : Official Journal of the... Jun 2018Oromandibular dystonia (OMD) is an isolated focal dystonia that affects the muscles of the jaw, lower face and tongue. It is a rare disorder but is associated with... (Review)
Review
Oromandibular dystonia (OMD) is an isolated focal dystonia that affects the muscles of the jaw, lower face and tongue. It is a rare disorder but is associated with significant impairment in quality of life. Treatment with oral medications has not been successful. Surgical interventions, such as deep brain stimulation, may be of benefit but have not been adequately evaluated. Currently, botulinum toxin (BoNT) injections are regarded as the treatment of choice for OMD. However, the evidence supporting this is not available. Most studies are open label, observational studies, longitudinal clinical experience, case reports or retrospective analysis. From the available studies, OMD is responsive to appropriately targeted BoNT injections. Jaw closing dystonia responds the most robustly. Jaw opening dystonia is more complex to inject, but clinical experience is consistent with benefit. Lingual dystonia is the most difficult because injections into tongue muscles frequently give rise to dysphagia. More controlled studies are required to establish BoNT as an effective treatment for OMD.
Topics: Botulinum Toxins; Dystonia; Humans; Masticatory Muscles; Neuromuscular Agents
PubMed: 29453996
DOI: 10.1016/j.toxicon.2018.02.006 -
Parkinsonism & Related Disorders Sep 2019In isolated, sporadic dystonia, it has been occasionally reported that some patients might undergo symptom remission. However, the exact clinical characteristics of... (Meta-Analysis)
Meta-Analysis
In isolated, sporadic dystonia, it has been occasionally reported that some patients might undergo symptom remission. However, the exact clinical characteristics of patients with remission remain understudied. Given the important prognostic and pathophysiological implications of dystonic remission, we here provide a systematic review of the literature and a meta-analysis to assess demographic and clinical features associated with this phenomenon. We also provide a list of operational criteria to better define dystonic remission. Using PubMed and Embase, we conducted a systematic literature search in March 2018. 626 records were screened, 31 studies comprising data of 2551 cases with reports predominantly from patients with cervical dystonia (n = 1319) or blepharospasm/Meige syndrome (n = 704) were included in qualitative analysis. Five studies reporting remission in cervical dystonia were eligible for meta-analysis. Complete remission was reported in 11.8% and partial remission for 4.4% of cases. Remission rates were higher in cervical dystonia than in blepharospasm/Meige (e.g. complete remission 15.4% vs. 5.8% respectively). Remission occurred on average 4.5 years after onset of dystonic symptoms. However, the majority of patients (63.8%) relapsed. Meta-analysis for cervical dystonia showed that patients with remission were significantly younger at symptom onset than patients without remission (mean difference -7.13 years [95% CI: 10.58, -3.68], p < 0.0001). Based on our findings, we propose that the degree, the conditions associated with the onset, and the duration of remission are key factors to be considered in a unifying definition of dystonic remission.
Topics: Dystonic Disorders; Humans; Recurrence; Remission, Spontaneous
PubMed: 30898428
DOI: 10.1016/j.parkreldis.2019.02.020 -
Clinical Parkinsonism & Related... 2024Task specific dystonia is a movement disorder only affecting a highly practiced skill and is found in a broad set of expert movements including in sports. Despite... (Review)
Review
INTRODUCTION
Task specific dystonia is a movement disorder only affecting a highly practiced skill and is found in a broad set of expert movements including in sports. Despite affecting many sports, there is no comprehensive review of treatment options, which is in contrast to better studied forms of task specific dystonia in musicians and writers. For this reason, studies involving an intervention to treat task specific dystonia in sports were systematically reviewed, with special attention for the quality of outcome measures.
METHODS
The PICO systematic search strategy was employed on task-specific dystonia, and all synonyms. Inclusion criteria were peer reviewed published studies pertaining to sports, studies with a measurement and/or intervention in TSD, all in English. We excluded abstracts, expert opinions, narrative review articles, unpublished studies, dissertations and studies exclusively relating to choking. We included case reports, case studies and case-control studies.
RESULTS
In April 2022 Pubmed, Embase, Web of Science, and Psychinfo were searched. Of the 7000 articles identified, 31 were included that described psychological and invasive and/or pharmacological interventions. There was a lack of formal standardized outcome measures in studies resulting in low quality evidence for the effectiveness of treatment options. A descriptive synthesis showed emotional regulation was effective, but was exclusively tried in golfers. Interventions like botulinum toxin or pharmacology had a similar effectiveness compared to studies in musicians dystonia, however there was almost no formal evidence for these treatments.
CONCLUSION
The quality of studies was low with a lack of standardized outcome measures. Future studies with larger cohorts and quantitative outcome measures are needed to improve understanding of treatments for task specific dystonia in athletes.
PubMed: 38456155
DOI: 10.1016/j.prdoa.2024.100245 -
Clinical Psychopharmacology and... Nov 2017The discovery of endocannabinoid's role within the central nervous system and its potential therapeutic benefits have brought forth rising interest in the use of... (Review)
Review
The discovery of endocannabinoid's role within the central nervous system and its potential therapeutic benefits have brought forth rising interest in the use of cannabis for medical purposes. The present review aimed to synthesize and evaluate the available evidences on the efficacy of cannabis and its derivatives for psychiatric, neurodegenerative and movement disorders. A systematic search of randomized controlled trials of cannabis and its derivatives were conducted via databases (PubMed, Embase and the Cochrane Central Register of Controlled Trials). A total of 24 reports that evaluated the use of medical cannabis for Alzheimer's disease, anorexia nervosa, anxiety, dementia, dystonia, Huntington's disease, Parkinson's disease, post-traumatic stress disorder (PTSD), psychosis and Tourette syndrome were included in this review. Trial quality was assessed with the Cochrane risk of bias tool. There is a lack of evidence on the therapeutic effects of cannabinoids for amyotrophic lateral sclerosis and dystonia. Although trials with positive findings were identified for anorexia nervosa, anxiety, PTSD, psychotic symptoms, agitation in Alzheimer's disease and dementia, Huntington's disease, and Tourette syndrome, and dyskinesia in Parkinson's disease, definitive conclusion on its efficacy could not be drawn. Evaluation of these low-quality trials, as rated on the Cochrane risk of bias tools, was challenged by methodological issues such as inadequate description of allocation concealment, blinding and underpowered sample size. More adequately powered controlled trials that examine the long and short term efficacy, safety and tolerability of cannabis for medical use, and the mechanisms underpinning the therapeutic potential are warranted.
PubMed: 29073741
DOI: 10.9758/cpn.2017.15.4.301 -
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 -
Journal of Neurology Jan 2022Deep brain stimulation (DBS) is used for treating dystonia, commonly targeting the subthalamic nucleus (STN). Optimal stimulation parameters are required to achieve... (Review)
Review
BACKGROUND AND OBJECTIVE
Deep brain stimulation (DBS) is used for treating dystonia, commonly targeting the subthalamic nucleus (STN). Optimal stimulation parameters are required to achieve satisfying results. However, recommended parameters for STN-DBS remain to be identified. In this review, we aimed to assess the optimal stimulation parameters by analyzing previously published STN-DBS data of patients with dystonia.
METHODS
We examined the STN-DBS stimulation parameters used in studies on dystonia selected on the PubMed/Medline database.
RESULTS
Of the 86 publications retrieved from the PubMed/Medline database, we included 24, which consisted of data from 94 patients and 160 electrodes. Overall, the following average stimulation parameters were observed: amplitude, 2.59 ± 0.67 V; pulse width, 83.87 ± 34.70 μs; frequency, 142.08 ± 37.81 Hz. The average improvement rate was 64.72 ± 24.74%. The improvement rate and stimulation parameters were linearly dependent. The average improvement rate increased by 3.58% at each 10-Hz increase in frequency. In focal and segmental dystonia, the improvement rate and stimulation parameters were linearly dependent. The improvement rate increased by 6.06% and decreased by 2.14% at each 10-Hz increase in frequency and pulse width, respectively. Seventeen publications (83 patients) mentioned stimulation-related adverse effects, including dyskinesia (17), depression (8), transient dysarthria (5), weight gain (4), transient dysphasia (3), transient paresthesia (2), and sustained hyperkinesia (2).
CONCLUSIONS
The optimal stimulation parameter for STN-DBS varies across patients. Our findings may be useful for DBS programming based on the specific dystonia subtypes, especially for patients with focal and segmental dystonia.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Humans; Subthalamic Nucleus; Weight Gain
PubMed: 33385242
DOI: 10.1007/s00415-020-10372-x -
Cureus Jan 2024Parkinson's disease (PD) is a terminal, debilitating neurodegenerative disorder typically affecting individuals over 60. It is associated with various conditions that... (Review)
Review
Parkinson's disease (PD) is a terminal, debilitating neurodegenerative disorder typically affecting individuals over 60. It is associated with various conditions that drastically affect the patient's quality of life (QoL). Although there is no cure for PD, its symptoms can be significantly improved and even resolved through different treatments. Mainstay treatments for PD include levodopa combined with carbidopa, dopamine agonists, and even deep brain stimulation (DBS) of the subthalamic nucleus. New treatment methods have emerged, such as botulinum toxin (BoNT), which further improve symptoms and, thus, the QoL of patients with PD. Botulinum toxin is a potent neurotoxin produced by that typically causes descending paralysis by suppressing acetylcholine secretion. Serotypes used to treat various disorders include serotype A (BoNT-A) and serotype B (BoNT-B). This paper aims to evaluate the outcomes of BoNT injection on different symptoms associated with PD. An extensive review using PubMed, ScienceDirect, and ProQuest articles concerning 'botulinum toxin and Parkinson's disease' was done per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, resulting in 23,803 articles. After applying strict inclusion and exclusion criteria, the total number of articles was finally 41. The results showed that movement disorders were a common occurrence in PD, consisting of tremors, dystonia, and freezing of gait (FOG), with tremors being the most common symptom. Tremors and dystonia were significantly improved following BoNT-A, correlating with significant improvements in various scales subjectively and objectively evaluating the symptoms and QoL. In contrast, FOG was not significantly improved by either BoNT-A or BoNT-B. Pain is associated with movement disorders such as PD and was the primary indication for the administration of BoNT; studies found pain and QoL were significantly improved following BoNT injection. Quality of life can also be affected by sialorrhea and overactive bladder, which often occur as the disease progresses. Injections of BoNT-A and BoNT-B were shown to significantly improve saliva production, flow rate, drooling frequency, voiding frequency, and urinary urge incontinence. Across all studies analyzed, it is evident that BoNT may have a significant effect on improving the QoL of patients suffering from PD. While research continues to find a cure or stop the progression of PD, it remains critical to continue focusing on improving patients' QoL. Future research should evaluate whether BoNT can be used to successfully treat other symptoms of PD, such as epiphora or constipation.
PubMed: 38435899
DOI: 10.7759/cureus.53309 -
BMC Neurology Mar 2016Primary dystonia is a chronic neurological movement disorder that causes abnormal muscle movements. Pain and emotional distress may accompany these physical symptoms.... (Review)
Review
BACKGROUND
Primary dystonia is a chronic neurological movement disorder that causes abnormal muscle movements. Pain and emotional distress may accompany these physical symptoms. Behavioural interventions are used to help people with long term conditions improve their quality of life. Little is known about behavioural interventions applied to Dystonia. We report a systematic review of studies reporting current evidence of behavioural interventions for people with primary dystonia.
METHODS
We did systematic searches of Medline, PsycINFO, AHMED and CINAHL. We assessed the methodological quality of included studies using a risk of bias tool. Any disagreements were resolved by liaising with an independent rater. Physiological outcomes such as dystonia severity and psychological outcomes such as sleep and depression were selected on the basis that primary dystonia causes motor and non-motor symptoms. No time limit was placed on the searches. A narrative synthesis of the results is presented.
RESULTS
Of 1798 titles and abstracts screened, 14 full articles were retrieved and inclusion and exclusion criteria applied. Of these a final nine were eligible for the review (N = 73). Only two were Randomised Controlled Trials (RCTs). Using the Movement Disorders Society (MDS) dystonia classification, that was published after this work started, all of the included studies were of idiopathic adult onset focal dystonia without associated features. These included: blepharospasm (eye dystonia) (N = 1), cervical dystonia (neck dystonia) (N = 2), writer's cramp (hand dystonia) (N = 3) and the yips (N = 3). No studies reported on dystonia that affects two or more body regions. Studies reported good adherence and response rates to treatment. Physiological and psychological improvements were noted in all studies at weekly, monthly and yearly follow-ups. Caution should be taken when interpreting the results because of the scarcity of RCTs identified, use of small sample sizes, and inappropriate statistical methods.
CONCLUSION
We identified few studies; mainly of poor methodological quality that all studied a focal dystonia. It is not possible to draw firm conclusions. Nevertheless, the data suggests that a combined behavioural therapy approach including relaxation practice for people with idiopathic adult onset focal dystonia merits further investigation.
Topics: Adult; Behavior Therapy; Depression; Dystonic Disorders; Humans; Quality of Life
PubMed: 27000094
DOI: 10.1186/s12883-016-0562-y -
Frontiers in Neurology 2019There are recent reports of zolpidem being effective for the treatment of a variety of movement disorders, due to its action on the gamma-aminobutyric acid A receptors...
There are recent reports of zolpidem being effective for the treatment of a variety of movement disorders, due to its action on the gamma-aminobutyric acid A receptors in the thalamus, subthalamic nucleus, and globus pallidus, hence facilitating inhibitory pathways in the basal ganglia motor loop. Its beneficial effects have been described for Parkinson's disease and other related disorders. The objective of this study was to assess the therapeutic effects of zolpidem for various types of dystonia. We conducted a literature search using MEDLINE via PubMed, Cochrane Library, EMBASE, Scopus, and Google Scholar. There were no randomized controlled trials. The literature included 6 case reports, 4 case series, and 1 non-randomized, non-controlled interventional trial. Overall, 49 adult participants (range 1-34 participants) with a mean age of 49.5 years were treated. Regardless of the dystonia subtype, a single dose of zolpidem at 10 mg causes improvement of symptoms for a mean duration of 3.4 h until patient returns to baseline. The main adverse effect noted was drowsiness, which was dose-dependent. While the current available literature suggests that zolpidem may be an effective pharmacologic option for treating dystonia, however the quality of evidence remains limited. Larger sample size, methodological consistency, and randomized controlled trials with long-term patient follow-ups are necessary to come up with definitive conclusion.
PubMed: 31379728
DOI: 10.3389/fneur.2019.00779 -
Neurological Sciences : Official... Aug 2022Cervical dystonia (CD) is an isolated, focal, idiopathic dystonia affecting the neck and upper back. CD is usually treated by botulinum neurotoxin (BoNT) injections into... (Review)
Review
BACKGROUND
Cervical dystonia (CD) is an isolated, focal, idiopathic dystonia affecting the neck and upper back. CD is usually treated by botulinum neurotoxin (BoNT) injections into the dystonic muscles; however, about 20% of people will discontinue BoNT therapy. This systematic review aimed to determine the barriers to satisfaction and facilitators that could improve satisfaction with BoNT therapy for people with CD.
METHODS
A database search for journal articles investigating satisfaction with BoNT treatment in CD identified seven qualitative studies and one randomised controlled trial. Results were grouped into "direct" and "indirect" barriers and facilitators.
RESULTS
The most reported direct barrier to satisfaction with BoNT was treatment non-response, reported by up to 66% of participants. Other direct barriers included negative side effects, early wearing-off of treatment effect and inexperience of the treating physician. Indirect barriers included limited accessibility to treatment (including cost) and personal choice. Direct facilitators of satisfaction with BoNT included relief of symptoms and flexible re-treatment intervals. Indirect facilitators included easy accessibility to treatment.
CONCLUSIONS
Despite BoNT having a discontinuation rate of only 20%, it appears a much greater proportion of people with CD are dissatisfied with this treatment. As BoNT is currently the main treatment offered to people with CD, efforts to improve treatment response rates, reduce side effects and make treatment more flexible and readily available should be adopted to improve the quality of life for people with CD.
Topics: Botulinum Toxins; Botulinum Toxins, Type A; Dystonic Disorders; Humans; Neuromuscular Agents; Personal Satisfaction; Quality of Life; Randomized Controlled Trials as Topic; Torticollis
PubMed: 35593979
DOI: 10.1007/s10072-022-06114-8