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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 Oct 2018Deep brain stimulation (DBS) has emerged as an effective treatment in medically intractable dystonia, with the globus pallidus internus (GPi) being most frequently... (Review)
Review
INTRODUCTION
Deep brain stimulation (DBS) has emerged as an effective treatment in medically intractable dystonia, with the globus pallidus internus (GPi) being most frequently targeted. Non-motor symptoms, including pain and psychiatric, cognitive and sleep disturbances, are increasingly recognized as important determinants of disease burden in dystonia patients. We reviewed non-motor outcomes of DBS in dystonia, focusing on GPi-DBS.
METHODS
A systematic literature search of Pubmed and Embase was performed according to the PRISMA guidelines.
RESULTS
Fifty-two studies were included. GPi-DBS reduced pain related to dystonia. No major effects on anxiety, mood, and cognition were found. In contrast to motor outcome, non-motor outcome seems more independent of the etiology of dystonia. However, the impact of potential confounders (e.g. patient factors, changes in pharmacological treatment) is unclear.
CONCLUSION
Despite the growing interest in non-motor symptoms in dystonia, DBS studies still focus primarily on motor outcome. We recommend systematic evaluation of both non-motor and motor features before and after DBS interventions to improve quality of life and management of patients with dystonia.
Topics: Cognition Disorders; Deep Brain Stimulation; Dystonia; Globus Pallidus; Humans; Mood Disorders; Pain; Treatment Outcome
PubMed: 29945825
DOI: 10.1016/j.parkreldis.2018.06.024 -
Developmental Medicine and Child... Oct 2011Studies on the use of intrathecal baclofen (ITB) for ambulant adults with spasticity and/or dystonia of cerebral origin are scarce, and are even more limited for... (Review)
Review
AIM
Studies on the use of intrathecal baclofen (ITB) for ambulant adults with spasticity and/or dystonia of cerebral origin are scarce, and are even more limited for children and adolescents. This systematic review investigates the use of ITB to improve walking, transfer ability, and gross motor activities in ambulant children and adolescents with spasticity and/or dystonia of cerebral origin.
METHOD
Electronic databases (MEDLINE, CINAHL, PsycINFO, EMBASE, full Cochrane Library, and PEDro) were searched from the earliest date available until March 2011 using combined subject headings and free text if supported by the databases. Studies were included if they had examined individuals who: (1) received ITB therapy by any method (bolus injection, an external delivery system, or an implanted pump); (2) had spasticity and/or dystonia of cerebral origin; (3) were able to ambulate with or without a walking device, i.e. individuals with cerebral palsy (CP) who were in levels I to III of the Gross Motor Function Classification System or individuals with similar functional mobility if they did not have CP; and (4) were aged 18 years or under. Publications in English in peer-reviewed journals reporting any type of research design, except reviews and expert opinions, were included. Studies were excluded if participants had spasticity and/or dystonia of spinal origin and if baclofen was administered only orally. Studies that compared ITB with other interventions such as botulinum toxin were also excluded.
RESULTS
Two independent reviewers scored 16 studies against the guidelines for developing systematic reviews from the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM).
INTERPRETATION
Fifteen studies were of levels IV or V evidence and only one of level II according to the evidence levels of the AACPDM guidelines, but all were of low quality. No study was found on the use of ITB in ambulant children or adolescents with dystonia of cerebral origin. Not all studies used objective outcome measures to assess the ambulation, transfer ability, and gross motor activities of the participants. A proportion of participants showed improvement in all these areas but adverse events were common. A proportion of participants compromised their ambulatory and transfer abilities after ITB. There was no evidence to support the clinical use of ITB in ambulant individuals with hypertonicity without further rigorous longitudinal studies.
Topics: Adolescent; Baclofen; Cerebral Cortex; Child; Databases, Factual; Dystonia; Electronic Health Records; Humans; Injections, Spinal; Muscle Relaxants, Central; Muscle Spasticity
PubMed: 21635230
DOI: 10.1111/j.1469-8749.2011.03992.x -
Neuromodulation : Journal of the... Apr 2024Guanine nucleotide-binding protein alpha-activating activity polypeptide O (GNAO1) syndrome, a rare congenital monogenetic disorder, is characterized by a... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Guanine nucleotide-binding protein alpha-activating activity polypeptide O (GNAO1) syndrome, a rare congenital monogenetic disorder, is characterized by a neurodevelopmental syndrome and the presence of dystonia. Dystonia can be very pronounced and even lead to a life-threatening status dystonicus. In a small number of pharmaco-refractory cases, deep brain stimulation (DBS) has been attempted to reduce dystonia. In this study, we summarize the current literature on outcome, safety, and outcome predictors of DBS for GNAO1-associated dystonia.
MATERIALS AND METHODS
We conducted a systematic review and meta-analysis on individual patient data. We included 18 studies describing 28 unique patients.
RESULTS
The mean age of onset of symptoms was 2.4 years (SD 3.8); 16 of 28 patients were male, and dystonia was nearly always generalized (20/22 patients). Symptoms were present before DBS for a median duration of 19.5 months, although highly variable, occurring between 3 and 168 months. The exact phenotype, genotype, and radiologic abnormalities varied and seemed to be of little importance in terms of DBS outcome. All studies described an improvement in dystonia. Our meta-analysis focused on pallidal DBS and found an absolute and relative improvement in Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) of 32.5 points (37.9%; motor part; p = 0.001) and 5.8 points (21.5%; disability part; p = 0.043) at last follow-up compared with preoperative state; 80% of patients were considered responders (BFMDRS-M reduction by ≥25%). Although worsening over time does occur, an improvement was still observed in patients after >10 years. All reported cases of status dystonicus resolved after DBS surgery. Skin erosion and infection were observed in 18% of patients.
CONCLUSION
Pallidal DBS can be efficacious and safe in GNAO1-associated dystonia.
Topics: Child, Preschool; Female; Humans; Male; Deep Brain Stimulation; Dystonia; Dystonic Disorders; Globus Pallidus; GTP-Binding Protein alpha Subunits, Gi-Go; Heredodegenerative Disorders, Nervous System; Treatment Outcome; Infant, Newborn; Infant; Child
PubMed: 37999699
DOI: 10.1016/j.neurom.2023.10.187 -
Annals of Neurology Sep 2023We sought to better understand the workflow, outcomes, and complications of deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic...
OBJECTIVE
We sought to better understand the workflow, outcomes, and complications of deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic review, alongside a multicenter case series of pediatric patients with SD treated with DBS.
METHODS
We collected individual data regarding treatment, stimulation parameters, and dystonia severity for a multicenter case series (n = 8) and all previously published cases (n = 77). Data for case series were used to create probabilistic voxelwise maps of stimulated tissue associated with dystonia improvement.
RESULTS
In our institutional series, DBS was implanted a mean of 25 days after SD onset. Programming began a mean of 1.6 days after surgery. All 8 patients in our case series and 73 of 74 reported patients in the systematic review had resolution of their SD with DBS, most within 2 to 4 weeks of surgery. Mean follow-up for patients in the case series was 16 months. DBS target for all patients in the case series and 68 of 77 in our systematic review was the globus pallidus pars interna (GPi). In our case series, stimulation of the posterior-ventrolateral GPi was associated with improved dystonia. Mean dystonia improvement was 32% and 51% in our institutional series and systematic review, respectively. Mortality was 4% in the review, which is lower than reported for treatment with pharmacotherapy alone (10-12.5%).
INTERPRETATION
DBS is a feasible intervention with potential to reverse refractory pediatric SD and improve survival. More work is needed to increase awareness of DBS in this setting, so that it can be implemented in a timely manner. ANN NEUROL 2023.
PubMed: 37714824
DOI: 10.1002/ana.26799 -
European Journal of Neurology May 2006To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often... (Review)
Review
To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. Computerized MEDLINE and EMBASE literature reviews (1966-1967 February 2005) were conducted. The Cochrane Library was searched for relevant citations. Diagnosis and classification of dystonia are highly relevant for providing appropriate management and prognostic information, and genetic counselling. Expert observation is suggested. DYT-1 gene testing in conjunction with genetic counselling is recommended for patients with primary dystonia with onset before age 30 years and in those with an affected relative with early onset. Positive genetic testing for dystonia (e.g. DYT-1) is not sufficient to make diagnosis of dystonia. Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11). A levodopa trial is warranted in every patient with early onset dystonia without an alternative diagnosis. Brain imaging is not routinely required when there is a confident diagnosis of primary dystonia in adult patients, whereas it is necessary in the paediatric population. Botulinum toxin (BoNT) type A (or type B if there is resistance to type A) can be regarded as first line treatment for primary cranial (excluding oromandibular) or cervical dystonia and can be effective in writing dystonia. Actual evidence is lacking on direct comparison of the clinical efficacy and safety of BoNT-A vs. BoNT-B. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for generalized or cervical dystonia, after medication or BoNT have failed to provide adequate improvement. Selective peripheral denervation is a safe procedure that is indicated exclusively in cervical dystonia. Intrathecal baclofen can be indicated in patients where secondary dystonia is combined with spasticity. The absolute and comparative efficacy and tolerability of drugs in dystonia, including anticholinergic and antidopaminergic drugs, is poorly documented and no evidence-based recommendations can be made to guide prescribing.
Topics: Botulinum Toxins; Brain; Counseling; Denervation; Dopamine Antagonists; Dystonia; Genetic Techniques; Humans; Magnetic Resonance Imaging; Practice Guidelines as Topic; Syndrome
PubMed: 16722965
DOI: 10.1111/j.1468-1331.2006.01537.x -
Journal of Affective Disorders Nov 2015Although some authors have recently investigated the co-occurrence of anxiety and bipolar disorders, the topic remains insufficiently studied. Defining the prevalence... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Although some authors have recently investigated the co-occurrence of anxiety and bipolar disorders, the topic remains insufficiently studied. Defining the prevalence and predictors of BD-OCD comorbidity has important nosological, clinical and therapeutic implications.
METHODS
A systematic review and meta-analysis was conducted on the prevalence and predictors of comorbid BD-OCD. Relevant papers published through March 30th, 2015 were identified searching the electronic databases MEDLINE, Embase, PsycINFO and the Cochrane Library.
RESULTS
46 articles met inclusion criteria. The pooled prevalence of OCD in BD was 17.0% (95% CI 12.7-22.4%), which was comparable to the results reported by the pooled prevalence of BD in OCD (18.35%, 95% CI 13.2-24.8%). With regard to OCD-BD predictors, a higher mean age predicted a lower prevalence of OCD in BD patients. Sub group meta-analyses reported higher OCD prevalence rates in BD children and adolescents (24.2%, compared to 13.5% in adults), in BD-I patients (24.6%, compared to 13.6% in mixed BD patients), and among population-based studies (22.2%, compared to 13.2% in hospital-based studies).
LIMITATIONS
Most studies use retrospective assessment scales with low sensitivity in discriminating true ego-dystonic obsessions from depressive ruminations that may bias results towards an overestimation of obsessive symptom prevalence.
CONCLUSIONS
This first systematic review and meta-analysis of the prevalence and predictors of comorbid BD-OCD confirms that BD-OCD comorbidity is a common condition in psychiatry with children and adolescents and BD-I patients as the most affected subgroups.
Topics: Age Factors; Bipolar Disorder; Comorbidity; Humans; Obsessive-Compulsive Disorder; Prevalence
PubMed: 26233320
DOI: 10.1016/j.jad.2015.06.005 -
The Journal of Clinical Psychiatry Nov 2012Tardive dyskinesia and dystonia (TDD) are severe side effects of dopamine-blocking agents, particularly antipsychotics. While deep brain stimulation (DBS) has proven... (Review)
Review
BACKGROUND
Tardive dyskinesia and dystonia (TDD) are severe side effects of dopamine-blocking agents, particularly antipsychotics. While deep brain stimulation (DBS) has proven effective in the treatment of TDD, little is known about the possible psychiatric complications of DBS in psychiatric patients.
OBJECTIVE
To assess the efficacy and safety, specifically the psychiatric side effects, of DBS in patients with medication-induced TDD.
DATA SOURCES
PubMed and EMBASE databases were searched systematically on May 25, 2011, for articles written in English, using the search terms deep brain stimulation AND tardive.
STUDY SELECTION
Of the 88 original articles retrieved, 17 studies involving 50 patients with TDD who underwent DBS were included in the review.
DATA EXTRACTION
Data on the severity of the movement disorders before and after DBS, as rated on the Burke-Fahn-Marsden Dystonia Rating Scale or similar scales, were extracted. Data on psychiatric symptoms before and after DBS were used to calculate the percent improvement per patient per rating scale. Overall improvement and confidence intervals were calculated using a 1-sample, 2-sided Student t test.
RESULTS
The mean improvement of TDD of the combined patients 3 to 76 months after implantation was 77.5% (95% CI, 71.4%-83.3%; P < .000) on the Burke-Fahn-Marsden Dystonia Rating Scale. Of the 50 patients, 1 experienced an exacerbation of depression, and 1 experienced an exacerbation of psychosis.
CONCLUSIONS
DBS seems to be effective and relatively safe for patients with treatment-resistant TDD; however, the results should be interpreted with caution, as most of the data are from case reports and small trials.
Topics: Antiemetics; Deep Brain Stimulation; Dyskinesia, Drug-Induced; Dystonic Disorders; Globus Pallidus; Humans; Neurologic Examination; Psychiatric Status Rating Scales; Psychotropic Drugs; Treatment Outcome
PubMed: 23218160
DOI: 10.4088/JCP.12r07643 -
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 -
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