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Dystonia

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1. Dystonias

Dystonias Dystonias - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Dystonias Last reviewed: February 2019 Last updated: January 2019 Summary Movement disorder characterised by sustained involuntary muscle contractions and abnormal postures of the trunk, neck, face, or extremities. The involuntary movements are associated with simultaneous contraction of agonist and antagonist muscles, with unwanted 'overflow (...) ' contraction of adjacent muscles. In some cases, pain in the affected muscles can be a prominent feature. Dystonia may improve with simple 'sensory tricks' such as lightly touching the affected body part (geste antagoniste). Can be generalised or focal, primary (with no other neurological abnormalities), or secondary to a structural lesion. Dopa-responsive dystonias, although rare, should always be considered if generalised, as levodopa is dramatically effective in these situations. Treatment

2019 BMJ Best Practice

2. Deep brain stimulation for dystonia. (PubMed)

Deep brain stimulation for dystonia. 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.To compare the efficacy, safety, and tolerability of deep brain stimulation (DBS) versus placebo, sham intervention, or best medical care, including botulinum (...) outcome was symptom improvement on any validated symptomatic rating scale, and the primary safety outcome was adverse events.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

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2019 Cochrane

4. Dystonias

Dystonias Dystonias - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Dystonias Last reviewed: February 2019 Last updated: January 2019 Summary Movement disorder characterised by sustained involuntary muscle contractions and abnormal postures of the trunk, neck, face, or extremities. The involuntary movements are associated with simultaneous contraction of agonist and antagonist muscles, with unwanted 'overflow (...) ' contraction of adjacent muscles. In some cases, pain in the affected muscles can be a prominent feature. Dystonia may improve with simple 'sensory tricks' such as lightly touching the affected body part (geste antagoniste). Can be generalised or focal, primary (with no other neurological abnormalities), or secondary to a structural lesion. Dopa-responsive dystonias, although rare, should always be considered if generalised, as levodopa is dramatically effective in these situations. Treatment

2018 BMJ Best Practice

5. Assessment of infantile dystonia

Assessment of infantile dystonia Assessment of infantile dystonia - Differential diagnosis of symptoms | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Assessment of infantile dystonia Last reviewed: February 2019 Last updated: June 2018 Summary Abnormal movement disorders are classified as parkinsonism, dystonia, tremor, chorea, myoclonus, tics, stereotypies, and complex movement disorder. Dystonia is described as contraction of both agonist (...) and antagonist muscles simultaneously, causing twisting and repetitive movements or abnormal postures. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol. 1998;78:1-10. http://www.ncbi.nlm.nih.gov/pubmed/9750897?tool=bestpractice.com The earlier the age of onset, the more generalised and severe the condition tends to be. Dystonic movements Dystonic movements are patterned and sustained. They repeatedly involve the same muscle groups. The urge to perform the dystonic movements is absent

2018 BMJ Best Practice

6. Trihexyphenidyl for dystonia in cerebral palsy. (PubMed)

Trihexyphenidyl for dystonia in cerebral palsy. Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. The involuntary contractions are often very painful and distressing and cause significant limitations (...) to activity and participation.Oral medications are often the first line of medical treatment for dystonia. Trihexyphenidyl is one such medication that clinicians often use to treat dystonia in people with cerebral palsy.To assess the effects of trihexyphenidyl in people with dystonic cerebral palsy, according to the World Health Organization's (WHO) International Classification of Functioning, Disability and Health (ICF) domains of impairment, activity and participation. We also assessed the type

2018 Cochrane

7. Switching Botulinum Toxin A Products for Patients with Upper Limb Spasticity or Cervical Dystonia: A Review of Clinical Effectiveness

Switching Botulinum Toxin A Products for Patients with Upper Limb Spasticity or Cervical Dystonia: A Review of Clinical Effectiveness Switching Botulinum Toxin A Products for Patients with Upper Limb Spasticity or Cervical Dystonia: A Review of Clinical Effectiveness | CADTH.ca Find the information you need Switching Botulinum Toxin A Products for Patients with Upper Limb Spasticity or Cervical Dystonia: A Review of Clinical Effectiveness Switching Botulinum Toxin A Products for Patients (...) with Upper Limb Spasticity or Cervical Dystonia: A Review of Clinical Effectiveness Last updated: February 9, 2018 Project Number: RC0960-000 Product Line: Research Type: Drug Report Type: Summary with Critical Appraisal Result type: Report Question What is the clinical effectiveness of switching botulinum toxin A products for patients with upper limb spasticity? What is the clinical effectiveness of switching botulinum toxin A products for patients with cervical dystonia? Key Message No literature

2018 Canadian Agency for Drugs and Technologies in Health - Rapid Review

8. Botulinum toxin type A therapy for cervical dystonia. (PubMed)

Botulinum toxin type A therapy for cervical dystonia. This is an update of a Cochrane Review first published in 2005. Cervical dystonia is the most common form of focal dystonia and is a highly disabling movement disorder characterised by involuntary, usually painful, head posturing. Currently, botulinum toxin type A (BtA) is considered the first line therapy for this condition.To compare the efficacy, safety, and tolerability of botulinum toxin type A (BtA) versus placebo in people (...) was improvement in cervical dystonia-specific impairment. The primary safety outcome was the proportion of participants with any adverse event.We included eight RCTs of moderate overall risk of bias, including 1010 participants with cervical dystonia. Six studies excluded participants with poorer responses to BtA treatment, therefore including an enriched population with a higher probability of benefiting from this therapy. Only one trial was independently funded. All RCTs evaluated the effect of a single BtA

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2017 Cochrane

9. Botulinum toxin type A versus botulinum toxin type B for cervical dystonia. (PubMed)

Botulinum toxin type A versus botulinum toxin type B for cervical dystonia. This is an update of a Cochrane review first published in 2003. Cervical dystonia is the most common form of focal dystonia and is a disabling disorder characterised by painful involuntary head posturing. There are two available formulations of botulinum toxin, with botulinum toxin type A (BtA) usually considered the first line therapy for this condition. Botulinum toxin type B (BtB) is an alternative option (...) at the time. Therefore, with this update we are able to change the conclusions of this review. There is low quality evidence that a single treatment session of BtA (specifically onabotulinumtoxinA) and a single treatment session of BtB (rimabotulinumtoxinB) are equally effective and safe in the treatment of adults with certain types of cervical dystonia. Treatment with BtB appears to present an increased risk of sore throat/dry mouth, compared to BtA. Overall, there is no clinical evidence from

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2016 Cochrane

10. Botulinum toxin type B for cervical dystonia. (PubMed)

Botulinum toxin type B for cervical dystonia. 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.To compare the efficacy, safety and tolerability of botulinum (...) . 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.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

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2016 Cochrane

11. Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache

Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache | Neurology Advertisement Search for this keyword Main menu User menu Search Search for this keyword The most widely read and highly cited peer-reviewed neurology journal Share May 10, 2016 ; 86 (19) Special Article Practice guideline update summary (...) : Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache Report of the Guideline Development Subcommittee of the American Academy of Neurology David M. Simpson , Mark Hallett , Eric J. Ashman , Cynthia L. Comella , Mark W. Green , Gary S. Gronseth , Melissa J. Armstrong , David Gloss , Sonja Potrebic , Joseph Jankovic , Barbara P. Karp , Markus Naumann , Yuen T. So , Stuart A. Yablon First published April 18, 2016, DOI: https://doi.org/10.1212/WNL

2016 American Academy of Neurology

12. A pilot trial of square biphasic pulse deep brain stimulation for dystonia: The BIP dystonia study. (PubMed)

A pilot trial of square biphasic pulse deep brain stimulation for dystonia: The BIP dystonia study. Dystonia often has inconsistent benefits and requires more energy-demanding DBS settings. Studies suggest that squared biphasic pulses could provide significant clinical benefit; however, dystonia patients have not been explored.To assess safety and tolerability of square biphasic DBS in dystonia patients.This study included primary generalized or cervical dystonia patients with bilateral GPi DBS (...) stimulation appears safe and feasible in dystonia patients with GPi DBS. Further studies are needed to evaluate possible effectiveness particularly in cervical and gait features. © 2016 International Parkinson and Movement Disorder Society.© 2017 International Parkinson and Movement Disorder Society.

2017 Movement Disorders

13. Unmet Needs in Dystonia: Genetics and Molecular Biology—How Many Dystonias? (PubMed)

Unmet Needs in Dystonia: Genetics and Molecular Biology—How Many Dystonias? Genetic findings of the past years have provided ample evidence for a substantial etiologic heterogeneity of dystonic syndromes. While an increasing number of genes are being identified for Mendelian forms of isolated and combined dystonias using classical genetic mapping and whole-exome sequencing techniques, their precise role in the molecular pathogenesis is still largely unknown. Also, the role of genetic risk (...) factors in the etiology of sporadic dystonias is still enigmatic. Only the systematic ascertainment and precise clinical characterization of very large cohorts with dystonia, combined with systematic genetic studies, will be able to unravel the complex network of factors that determine disease risk and phenotypic expression.

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2017 Frontiers in neurology

14. Velopharyngeal Dystonia: An Unusual Focal Task-specific Dystonia? (PubMed)

Velopharyngeal Dystonia: An Unusual Focal Task-specific Dystonia? Velopharyngeal dysfunction produces a nasal speech pattern because of the inability to close the nasal airway during speech, most often associated with anatomical abnormalities of the palate.We describe two cases of possible velopharyngeal dystonia, a task-specific movement disorder causing a speech pattern similar to velopharyngeal dysfunction. Both patients experienced treatment response with anticholinergic medication.Dystonia

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2017 Tremor and Other Hyperkinetic Movements

15. Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia. (PubMed)

Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia. There is increasing evidence that supports the role of the cerebellum in the pathophysiology of dystonia. We used transcranial magnetic stimulation to test the hypothesis that patients with cervical dystonia may have a disrupted cerebellar cortical connectivity at rest, and that cerebellar plasticity is altered too. We enrolled 12 patients with isolated cervical dystonia and 13 controls. A paired-pulse transcranial (...) was able to inhibit the amplitude of the motor evoked potentials from primary motor cortex. In healthy subjects continuous and intermittent cerebellar Theta Burst Stimulation were able to decrease and increase respectively motor cortex excitability. Continuous Theta Burst Stimulation was able to abolish the cerebellar cortical inhibition observed in basal condition. These effects were not observed in patients with cervical dystonia. Cerebellar cortical connectivity and cerebellar plasticity is altered

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2019 PLoS ONE

16. Injectable DaxibotulinumtoxinA in Cervical Dystonia: A Phase 2 Dose‐Escalation Multicenter Study (PubMed)

Injectable DaxibotulinumtoxinA in Cervical Dystonia: A Phase 2 Dose‐Escalation Multicenter Study Injectable daxibotulinumtoxinA (an investigational botulinum toxin, RT002) may offer a more prolonged duration of response-and therefore less frequent dosing-than onabotulinumtoxinA.To perform a phase 2, open-label, dose-escalation study to assess the efficacy and safety of daxibotulinumtoxinA in cervical dystonia.Subjects with moderate-to-severe isolated cervical dystonia were enrolled (...) site erythema (8%).Preliminary assessments suggest that injectable daxibotulinumtoxinA at doses up to 450 U is well tolerated and may offer prolonged efficacy in the treatment of cervical dystonia. Further studies involving larger numbers of patients are now warranted.

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2018 Movement disorders clinical practice

17. Systematic Review of Rehabilitation in Focal Dystonias: Classification and Recommendations (PubMed)

Systematic Review of Rehabilitation in Focal Dystonias: Classification and Recommendations 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.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

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2018 Movement disorders clinical practice

18. Peripheral trauma and risk of dystonia: What are the evidences and potential co-risk factors from a population insurance database? (PubMed)

Peripheral trauma and risk of dystonia: What are the evidences and potential co-risk factors from a population insurance database? Dystonia is a neurological syndrome typically resulting in abnormal postures.We tested the role of physical injury as potential risk factor for development of dystonia using The National Health Insurance Research Database of Taiwan.We identified 65704 people who were coded in the database as having had peripheral traumatic injuries (ICD-9-CM 807-848 and 860-959 (...) ) in the year 2000. Patients with traumatic brain or spine injuries were excluded from analysis. We matched them using purposive sampling with 65704 people in the database who had not suffered peripheral trauma. We looked then at the incidence of dystonia occurring at least 1 year from the date of the peripheral trauma until 2011. Psychiatric symptoms (depression and anxiety) and sleeps difficulties have been investigated as potential covariates.We found 189 patients with dystonia (0.28%) in the trauma

2019 PLoS ONE

19. Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor

Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI) escitalopram.In a randomised, double-blind, crossover trial, patients with CD received escitalopram (...) and placebo for 6 weeks. Treatment with BoNT was continued, and scores on rating scales regarding dystonia, psychiatric symptoms and quality of life (QoL) were compared. Primary endpoint was the proportion of patients that improved at least one point on the Clinical Global Impression Scale for jerks/tremor scored by independent physicians with experience in movement disorders.Fifty-threepatients were included. In the escitalopram period, 14/49 patients (29%) improved on severity of jerks/tremor versus 11

2018 EvidenceUpdates

20. Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia (PubMed)

Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312564-sup-v001_1.htm.

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2017 Movement disorders clinical practice

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