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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. 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

3. 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

4. Trihexyphenidyl for dystonia in cerebral palsy. Full Text available with Trip Pro

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

5. 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

7. Botulinum toxin A for cervical dystonia

Botulinum toxin A for cervical dystonia '); } else { document.write(' '); } ACE | Botulinum toxin A for treating cervical dystonia Search > > Botulinum toxin A for treating cervical dystonia - Botulinum toxin A for treating cervical dystonia Published on 2 September 2019 Guidance Recommendations The Ministry of Health's Drug Advisory Committee has recommended: Clostridium botulinum toxin type A neurotoxin complex (Botox) 50 U and 100 U injection vials for treating adults with cervical dystonia

2019 Appropriate Care Guides, Agency for Care Effectiveness (Singapore)

8. Botulinum toxin type A versus botulinum toxin type B for cervical dystonia. Full Text available with Trip Pro

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

2016 Cochrane

9. Injectable DaxibotulinumtoxinA in Cervical Dystonia: A Phase 2 Dose‐Escalation Multicenter Study Full Text available with Trip Pro

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.

2018 Movement disorders clinical practice

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

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

11. Velopharyngeal Dystonia: An Unusual Focal Task-specific Dystonia? Full Text available with Trip Pro

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

2017 Tremor and Other Hyperkinetic Movements

12. Unmet Needs in Dystonia: Genetics and Molecular Biology—How Many Dystonias? Full Text available with Trip Pro

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.

2017 Frontiers in neurology

13. Peripheral trauma and risk of dystonia: What are the evidences and potential co-risk factors from a population insurance database? Full Text available with Trip Pro

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

14. Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia. Full Text available with Trip Pro

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

2019 PLoS ONE

15. Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor (Abstract)

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

16. The prevalence of adult-onset isolated dystonia in Finland 2007-2016. Full Text available with Trip Pro

The prevalence of adult-onset isolated dystonia in Finland 2007-2016. Dystonia is a group of chronic diseases, causing considerable physical and psychosocial stress to patients and health care expenses. We studied the prevalence of different dystonia types in Finland in the years 2007-2016.All patients with an ICD-10 code of dystonia were retrieved from the national care register. Average age-adjusted yearly prevalence was assessed for adult-onset isolated idiopathic or hereditary dystonia (...) types from patient records from the Uusimaa and Pirkanmaa provinces.1316 patients were confirmed to have adult-onset isolated idiopathic or hereditary dystonia based on hospital records from two provinces. On average, the age-adjusted prevalence for all adult-onset dystonia was 405 per million and for cervical dystonia 304 per million. For other dystonia types the prevalence ranged from 1-33 per million.Adult onset cervical dystonia was the most common type of dystonia with relatively high

2018 PLoS ONE

17. Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a. Full Text available with Trip Pro

Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a. Autosomal-dominant, early-onset DYT1 dystonia is associated with an in-frame deletion of a glutamic acid codon (ΔE) in the TOR1A gene. The gene product, torsinA, is an evolutionarily conserved AAA+ ATPase. The fact that constitutive secretion from patient fibroblasts is suppressed indicates that the ΔE-torsinA protein influences the cellular secretory machinery. However, which

2018 PLoS ONE

18. Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia Full Text available with Trip Pro

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.

2017 Movement disorders clinical practice

19. Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations Full Text available with Trip Pro

Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations Deep brain stimulation (DBS) of the globus pallidus internus (GPi-DBS) is among the most effective treatment options for dystonias. Because the term "dystonia" is defined by a characteristic phenomenology of involuntary muscle contractions, which may present with a large clinical and pathogenetic heterogeneity, decision making for or against GPi-DBS can be difficult in individual patients.A search (...) of the PubMed database for research and review articles, focused on "deep brain stimulation" and "dystonia" was used to identify clinical trials and to determine current concepts in the surgical management of dystonia. Patient selection in previous studies was recategorized by the authors using the new dystonia classification put forward by a consensus committee of experts in dystonia research. The evidence and knowledge gaps are summarized and commented by the authors taking into account expert opinion

2017 Movement disorders clinical practice

20. A History of Dystonia: Ancient to Modern Full Text available with Trip Pro

A History of Dystonia: Ancient to Modern Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to identify in historical documents. Torticollis is an exception, although there is difficulty distinguishing dystonic torticollis from congenital muscular torticollis. There are, nevertheless, possible (...) representations of dystonia in literature and visual art from the pre-modern world. Eighteenth century systematic nosologists such as Linnaeus, de Sauvages, and Cullen had attempted to classify some spasmodic conditions, including torticollis. But only after Charcot's contributions to clinical neuroscience were the various forms of generalized and focal dystonia clearly delineated. They were categorized as névroses: Charcot's term for conditions without an identifiable neuroanatomical cause. For a time

2017 Movement disorders clinical practice

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