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Movement Disorders Clinical Practice 2016Acquired dystonia is caused by an acquired or exogenous event. Although the therapeutic armamentarium used in clinical practice is more or less similar to that used for... (Review)
Review
BACKGROUND
Acquired dystonia is caused by an acquired or exogenous event. Although the therapeutic armamentarium used in clinical practice is more or less similar to that used for inherited or idiopathic dystonia, formal proof of the efficacy of these interventions in acquired dystonia is lacking.
METHODS
The authors attempt to provide a comprehensive and systematic review of the current evidence for medical and allied health care treatment strategies in acquired dystonias. The PubMed, Cochrane Library, MEDLINE, Web of Science, PiCarta, and PsycINFO databases were searched up to December 2015, including randomized controlled trials, patient-control studies, and case series or single case reports containing a report on clinical outcome.
RESULTS
There are level 3 practice recommendations for botulinum toxin injections and globus pallidus pars interna deep brain stimulation for tardive dystonia and dystonic cerebral palsy as well as intrathecal baclofen for dystonic cerebral palsy. There are insufficient and conflicting data on the effect (vs. the hazard) of other pharmacological interventions, and limited work has been done on other forms of neurostimulation and allied health care. Because no class A1 or A2 studies were identified, level 1 or 2 practice recommendations could not be deducted for a specific treatment intervention.
CONCLUSIONS
To improve the current medical and allied health care treatment options for patients with acquired dystonia, high-quality trials that examine the efficacy of therapies need to be performed.
PubMed: 30363468
DOI: 10.1002/mdc3.12400 -
Cureus Sep 2023A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive... (Review)
Review
A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive pantothenate kinase-associated neurodegeneration (PKAN). Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis. Pigmentary retinal degeneration is a widespread cause of classic PKAN. Atypical PKAN is distinguished by a later onset (>10 years), noticeable speech abnormalities, psychological disorders, and slower disease development. Studies designed to support various PKAN therapeutic strategies have highlighted the intricacy of coenzyme A (CoA) metabolism and the limitations of our present understanding of disease causation. Therefore, improvements in our knowledge of the causes and therapy of PKAN may have ramifications for our comprehension of other, more prevalent diseases. They may also shed fresh light on the physiological significance of CoA, a cofactor essential for the operation of several cellular metabolic processes. The existence of low but considerable PANK2 expression, which can be elevated in some mutations, provides necessary information that can justify using a hefty dose of pantothenate as a treatment. A more effective therapeutic approach can be achieved by comparing the effects of various currently available pharmacological alternatives on the pathophysiological alterations in fibroblasts and neuronal cells obtained from PKAN patients. The objective of this study is to educate and inform people about PKAN disease conditions such as treatment, diagnosis, and complications. These cell models will also help evaluate the effectiveness of future medicinal innovations. This review discusses the neurodegeneration generated by pantothenate kinase in cellular models, iron/lipofuscin in pantothenate kinase-related neurodegeneration, and treatment and diagnosis of PKAN.
PubMed: 37900501
DOI: 10.7759/cureus.46135 -
Parkinsonism & Related Disorders Oct 2022Neuroimaging studies have identified both brain structural and functional abnormalities in patients with idiopathic cervical dystonia (iCD), but often yield diverse... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Neuroimaging studies have identified both brain structural and functional abnormalities in patients with idiopathic cervical dystonia (iCD), but often yield diverse results. We aim to find the specific and common neurostructural/functional abnormalities in iCD by conducting separate and multimodal meta-analyses across structural and functional neuroimaging studies.
METHODS
A systematic literature search was conducted to identify relevant publications. Separate meta-analysis for whole-brain voxel-based morphometry (VBM) studies and for functional imaging studies, and a multimodal meta-analysis across VBM and functional studies in iCD were conducted using anisotropic effect size-based signed differential mapping.
RESULTS
We included twenty-seven studies, including nine structural datasets comprising 152 iCD patients and 188 healthy controls, and seventeen functional datasets describing 352 iCD patients and 296 healthy controls. The multimodal analysis showed overlap between anatomic and functional changes in bilateral precentral and postcentral gyri, bilateral paracentral lobules, right supplementary motor area, bilateral median cingulate/paracingulate gyri, right caudate nucleus and thalamus, right cerebellum and lingual gyrus. We also found gray matter alterations alone in bilateral dorsolateral superior frontal gyri, left middle temporal gyrus, right inferior parietal gyrus, and left cerebellum; and altered functional activity alone in right fusiform gyrus, bilateral precuneus.
CONCLUSION
The current meta-analyses revealed significant conjoint and dissociated brain structural and functional abnormalities in iCD, and emphasized the involvement of cortico-thalamo-basal ganglia circuit and cerebellum.
Topics: Humans; Brain; Gray Matter; Magnetic Resonance Imaging; Neuroimaging; Torticollis
PubMed: 36100530
DOI: 10.1016/j.parkreldis.2022.08.029 -
BMJ Clinical Evidence Sep 2008Dystonia is usually a lifelong condition with persistent pain and disability. Focal dystonia affects a single part of the body; generalised dystonia can affect most or... (Review)
Review
INTRODUCTION
Dystonia is usually a lifelong condition with persistent pain and disability. Focal dystonia affects a single part of the body; generalised dystonia can affect most or all of the body. It is more common in women, and some types of dystonia are more common in people of European Ashkenazi Jewish descent.
METHODS AND OUTCOMES
We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of drug treatments, surgical treatments, and physical treatments for focal, and for generalised dystonia? We searched: Medline, Embase, The Cochrane Library, and other important databases up to July 2007 (BMJ Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA).
RESULTS
We found 13 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions.
CONCLUSIONS
In this systematic review we present information relating to the effectiveness and safety of the following interventions: acetylcholine receptor inhibitors, acupuncture, anticholinergic drugs, anticonvulsants, atypical antipsychotic drugs, benzodiazepines, biofeedback, botulinum toxin, chiropractic manipulation, deep brain stimulation of thalamus and globus pallidus, dopaminergic agonists and antagonists, gamma-aminobutyric acid (GABA) inhibitors, microvascular decompression, myectomy, occupational therapy, osteopathy, pallidotomy, physiotherapy, selective peripheral denervation, serotonergic agonists and antagonists, speech therapy, and thalamotomy.
Topics: Botulinum Toxins; Deep Brain Stimulation; Dystonia; Dystonia Musculorum Deformans; Dystonic Disorders; Follow-Up Studies; GABA Antagonists; Globus Pallidus; Humans
PubMed: 19445800
DOI: No ID Found -
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 -
BMC Pregnancy and Childbirth Oct 2023Postpartum urinary incontinence substantially impacts the psychophysical well-being of women. The influencing factors contributing to postpartum urinary incontinence... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Postpartum urinary incontinence substantially impacts the psychophysical well-being of women. The influencing factors contributing to postpartum urinary incontinence remain a subject of contention in clinical investigation. By elucidating the factors contributing to postpartum urinary incontinence, more efficacious interventions for laboring women can be devised. Consequently, this review endeavored to scrutinize the repercussions of maternal postpartum urinary incontinence to furnish empirical references for the clinical advancement of preventive strategies.
METHOD
The investigation employed bibliographic databases: Embase, PubMed, Web of Science, Cochrane Library, CBM, VIP, CNKI, and Wan Fang Data for article retrieval. A comprehensive consideration of all study designs was undertaken during the examination of the effects of postpartum urinary incontinence. The temporal limitation was set at all articles prior to February 2023. Studies incorporated laboring mothers experiencing normative labor and parturition. A total of 28,303 women were encompassed in the reviewed investigations.
RESULTS
A total of 5,915 putative citations were identified, from which 32 articles were selected for evaluating the effects of postpartum urinary incontinence. Meta-analyses revealed that the incidence of postpartum urinary incontinence was 26% [95%CI: (21% ~ 30%)]. Twelve pivotal variables were identified to influence postpartum urinary incontinence: cesarean delivery, vaginal delivery, age ≥ 35 years, multiparty (number of deliveries ≥ 2), neonatal weight > 4 kg, perineal dystonia, antecedents of urological incontinence-related pathology, maternal pre-conception BMI ≥ 24 kg/m^2, perineal laceration, instrumental parturition, historical pelvic surgical procedures, and protracted second stage of labor. Among these, cesarean delivery was identified as a protective factor against postpartum urinary incontinence.
CONCLUSION
The study corroborated that anamnestic factors pertinent to urinary incontinence, vaginal parturitions, and neonates with a weight exceeding 4 kg serve as significant risk factors for postpartum urinary incontinence. Cesarean delivery emerged as a protective factor against postpartum urinary incontinence. Based on the prevalence of postpartum urinary incontinence, proactive intervention is requisite to mitigate the risk of postpartum urinary incontinence in postpartum women possessing these risk factors.
TRIAL REGISTRATION
CRD42023412096.
Topics: Adult; Female; Humans; Pregnancy; Delivery, Obstetric; Parturition; Postpartum Period; Prevalence; Urinary Incontinence
PubMed: 37898733
DOI: 10.1186/s12884-023-06059-6 -
European Journal of Neurology Dec 2021Clinically relevant anxiety and anxiety disorders are commonly associated with adult-onset isolated dystonia, contributing substantially to quality-of-life impairment in... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND PURPOSE
Clinically relevant anxiety and anxiety disorders are commonly associated with adult-onset isolated dystonia, contributing substantially to quality-of-life impairment in patients with this movement disorder. However, the prevalence of anxiety symptoms and disorders in adult-onset isolated dystonia remains unclear. We aimed to conduct a systematic review and meta-analysis of the prevalence of anxiety symptoms/disorders in adult-onset isolated dystonia.
METHODS
Studies reporting the prevalence of anxiety disorders determined through diagnostic interviews or from clinically relevant anxiety symptoms detected with rating scales were identified in three databases (MEDLINE, EMBASE and PsycINFO). The gray literature was also examined to detect studies not captured through the search strategy.
RESULTS
The search strategy yielded 6535 citations; 34 studies met the inclusion criteria. The overall prevalence of clinically relevant anxiety symptoms and anxiety disorders for cervical dystonia was 40% (95% confidence interval [CI] 20% to 60%); for studies examining cranial dystonia it was 25% (95% CI 21% to 30%); for studies exploring mixed populations of adult-onset isolated dystonia it was 33.3% (95% CI 22% to 43%), 26% (95% CI 12% to 40%) for laryngeal dystonia, and 32% (95% CI 21% to 43%) for upper limb dystonia. Social phobia was the most prevalent anxiety disorder across the different forms of adult-onset isolated dystonia. Between-study statistical heterogeneity was high for most prevalence estimates.
CONCLUSIONS
Clinically relevant anxiety and anxiety disorders are common across all forms of adult-onset isolated dystonia. New research avenues should explore and plan the development of pathways of care targeting these important non-motor features.
Topics: Adult; Anxiety; Anxiety Disorders; Dystonic Disorders; Humans; Prevalence; Torticollis
PubMed: 34363292
DOI: 10.1111/ene.15050 -
Movement Disorders : Official Journal... May 2021This comprehensive MDSGene review is devoted to 7 genes - TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA - mutations in which may cause isolated dystonia. It followed... (Review)
Review
This comprehensive MDSGene review is devoted to 7 genes - TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA - mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of symptoms across mutation carriers in all 7 genes. Although carriers of TOR1A, THAP1, PRKRA, KMT2B, or HPCA mutations mostly showed childhood and adolescent onset, patients with GNAL and ANO3 mutations often developed first symptoms in adulthood. GNAL and KMT2B mutation carriers frequently have 1 predominant site of onset, that is, the neck (GNAL) or the lower limbs (KMT2B), whereas site of onset in DYT-TOR1A, DYT-THAP1, DYT-ANO3, DYT-PRKRA, and DYT-HPCA was broader. However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacial/laryngeal), whereas onset in DYT-TOR1A, DYT-PRKRA and DYT-HPCA was frequently observed in an extremity, including both upper and lower ones. For ANO3, a segmental/multifocal distribution was typical, whereas TOR1A, PRKRA, KMT2B, and HPCA mutation carriers commonly developed generalized dystonia. THAP1 mutation carriers presented with focal, segmental/multifocal, or generalized dystonia in almost equal proportions. GNAL mutation carriers rarely showed generalization. This review provides a comprehensive overview of the current knowledge of hereditary isolated dystonia. The data are also available in an online database (http://www.mdsgene.org), which additionally offers descriptive summary statistics. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Adolescent; Adult; Anoctamins; Apoptosis Regulatory Proteins; Child; DNA-Binding Proteins; Dystonia; Dystonic Disorders; Genotype; Humans; Molecular Chaperones; Mutation; Phenotype
PubMed: 33502045
DOI: 10.1002/mds.28485 -
Movement Disorders Clinical Practice 2018Rehabilitation interventions are rarely utilized as an alternative or adjunct therapy for focal dystonias. Reasons for limited utilization are unknown, but lack of... (Review)
Review
BACKGROUND
Rehabilitation interventions are rarely utilized as an alternative or adjunct therapy for focal dystonias. Reasons for limited utilization are unknown, but lack of conclusive evidence of effectiveness is likely a crucial factor.
METHODS AND FINDINGS
The purpose of this systematic review was to determine the level of evidence for rehabilitation interventions in focal dystonias. Rehabilitation interventions were classified based upon the underlying theoretical basis of different approaches, and the strength of evidence for each category was evaluated to identify gaps in the field. Prospective studies using rehabilitation methods in cervical, hand, and foot dystonia were reviewed. The key elements of treatments tested were identified and studies were grouped into six categories based on the theoretical basis of the intervention: (1) movement practice, (2) training with constraint, (3) sensory reorganization, (4) normalization of muscle activity with external techniques, (5) neuromodulation with training, and (6) compensatory strategies. Quality of the body of evidence ranged from very low-to-low according to the grades of recommendation, assessment, development, and evaluation (GRADE). Despite inconclusive evidence for these rehabilitation approaches, data suggest that intensive movement practice and neuromodulation combined with motor training should be further explored.
CONCLUSIONS
This systematic review presents a novel approach to classify studies of rehabilitation in focal dystonias based on the theoretical basis of intervention. The proposed classification system will move toward a unified theoretical understanding of rehabilitation interventions in dystonia. Moreover, it will help provide recommendations for clinical applications and future investigations.
PubMed: 30009212
DOI: 10.1002/mdc3.12574 -
Movement Disorders Clinical Practice 2016Dopa-responsive dystonia (DRD) and DRD-plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic... (Review)
Review
BACKGROUND
Dopa-responsive dystonia (DRD) and DRD-plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic heterogeneity. Dopamine is the main deficient neurotransmitter; however, a deficiency in norepinephrine and serotonin can coexist, depending on the gene and its degree of defect. Therefore, even though levodopa is the mainstay of therapy, response to levodopa can be suboptimal and, thus, other drugs are tried.
METHODS AND RESULTS
The authors searched for reports of DRD and DRD-plus and reviewed the drugs used, their response and side effects, and neurologic outcomes, including motor and cognition. Based on the current results, a recommended treatment plan is presented according to the type of enzyme defect in patients with DRD and DRD-plus.
CONCLUSIONS
It is important to recognize the features of DRD and DRD-plus, because many of them have a good clinical response to the appropriate treatment. The aim of this review is to help guide clinicians with planning treatment for patients with DRD and DRD-plus.
PubMed: 30363598
DOI: 10.1002/mdc3.12361