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Cervical dystonia

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https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#1
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27913194/genetic-screening-of-thap1-in-primary-dystonia-patients-of-india
#2
Subhajit Giri, Tufan Naiya, Zaffar Equbal, Charulata Savant Sankhla, Shyamal Kumar Das, Kunal Ray, Jharna Ray
BACKGROUND: Primary Dystonia is a common movement disorder manifested by dystonic symptoms only. DYT6, a major genetic factor, plays a significant role in primary pure dystonia pathogenesis. In this study we analyzed THAP1 (DYT 6) gene in primary pure dystonia patients, which has been widely studied in other populations but not in Indians. METHODS: The study cohort contained 227 index primary pure dystonia patients with the involvement of cervical region and 254 neurologically control individuals collected from East Indian population...
November 29, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#3
Marcos Eugenio Ramalho Bezerra, Pedro Augusto Sampaio Rocha-Filho
BACKGROUND: Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. METHOD: This was a narrative review. RESULTS: Craniocervical dystonia was associated with muscle pain in 67-89% of the cases...
December 2, 2016: Headache
https://www.readbyqxmd.com/read/27895619/a-functional-magnetic-resonance-imaging-study-of-head-movements-in-cervical-dystonia
#4
Cecília N Prudente, Randall Stilla, Shivangi Singh, Cathrin Buetefisch, Marian Evatt, Stewart A Factor, Alan Freeman, Xiaoping Philip Hu, Ellen J Hess, K Sathian, H A Jinnah
Cervical dystonia (CD) is a neurological disorder characterized by abnormal movements and postures of the head. The brain regions responsible for these abnormal movements are not well understood, because most imaging techniques for assessing regional brain activity cannot be used when the head is moving. Recently, we mapped brain activation in healthy individuals using functional magnetic resonance imaging during isometric head rotation, when muscle contractions occur without actual head movements. In the current study, we used the same methods to explore the neural substrates for head movements in subjects with CD who had predominantly rotational abnormalities (torticollis)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27886079/cerebellar-intermittent-theta-burst-stimulation-and-motor-control-training-in-individuals-with-cervical-dystonia
#5
Lynley V Bradnam, Michelle N McDonnell, Michael C Ridding
BACKGROUND: There is emerging evidence that cervical dystonia is a neural network disorder with the cerebellum as a key node. The cerebellum may provide a target for neuromodulation as a therapeutic intervention in cervical dystonia. OBJECTIVE: This study aimed to assess effects of intermittent theta-burst stimulation of the cerebellum on dystonia symptoms, quality of life, hand motor dexterity and cortical neurophysiology using transcranial magnetic stimulation...
November 23, 2016: Brain Sciences
https://www.readbyqxmd.com/read/27831867/real-time-ultrasound-segmentation-analysis-and-visualisation-of-deep-cervical-muscle-structure
#6
Ryan Cunningham, Peter Harding, Ian Loram
Despite widespread availability of ultrasound and a need for personalised muscle diagnosis (neck/back pain-injury, work related disorder, myopathies, neuropathies), robust, online segmentation of muscles within complex groups remains unsolved by existing methods. For example, Cervical Dystonia (CD) is a prevalent neurological condition causing painful spasticity in one or multiple muscles in the cervical muscle system. Clinicians currently have no method for targeting/monitoring treatment of deep muscles. Automated methods of muscle segmentation would enable clinicians to study, target, and monitor the deep cervical muscles via ultrasound...
November 1, 2016: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/27830106/occurrence-of-dysphagia-following-botulinum-toxin-injection-in-parkinsonism-related-cervical-dystonia-a-retrospective-study
#7
Addie Patterson, Leonardo Almeida, Christopher W Hess, Daniel Martinez-Ramirez, Michael S Okun, Ramon L Rodriguez, Valerie Rundle-Gonzalez, Aparna Wagle Shukla, Irene A Malaty
BACKGROUND: The aim was to compare the occurrence of post-injection dysphagia in parkinsonism-related cervical dystonia (PRCD) versus cervical dystonia (CD) of other etiologies (non-PRCD). A secondary objective was to explore potential clinical differences between PRCD and non-PRCD and their respective responses to botulinum toxin (BoNT). METHODS: A cross-sectional chart review was carried out of patients treated for CD with Onabotulinumtoxin A at the University of Florida...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27816992/impaired-heart-rate-variability-in-cervical-dystonia-is-associated-to-depression
#8
F Hentschel, D Dressler, M Abele, S Paus
Causes of cardiovascular autonomic dysfunction in cervical dystonia (CD) are poorly understood. Studies examining effects of botulinum neurotoxin (BoNT) therapy on heart rate variability (HRV) yielded contradictory results. There is compelling evidence that depression shifts autonomic balance towards sympathetic predominance. As depression is the most frequent non-motor symptom in CD, we sought to determine if it is associated to dysfunction of cardiovascular autonomic regulation. Standardized interviews, clinical examinations, self-rating forms, autonomic symptom questionnaire, and automated autonomic testing in outpatients with idiopathic CD were used...
November 5, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27815976/deficient-median-nerve-prepulse-inhibition-of-the-blink-reflex-in-cervical-dystonia
#9
Oya Öztürk, Ayşegül Gündüz, Meral E Kızıltan
OBJECTIVE: We analyzed prepulse inhibition (PPI) of the blink reflex (BR) in patients with cervical dystonia (CD) to examine the sensory modulation of the motor system. METHODS: This study enrolled 22 consecutive patients with idiopathic CD and 25 age- and gender-matched healthy subjects. Prepulse inhibition of the BR was recorded after stimulating the median nerve at the wrist using an electrical stimulus twice at a perception threshold 100ms before a test stimulus to the supraorbital nerve...
December 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27806874/submolecular-recognition-regions-of-the-hn-domain-of-the-heavy-chain-of-botulinum-neurotoxin-type-a-by-t-cells-from-toxin-treated-cervical-dystonia-patients
#10
Minako Oshima, Philip Deitiker, Joseph Jankovic, M Zouhair Atassi
We have recently reported the submolecular T-cell recognition profile of the C-terminal half (HC, residues 855-1296) of the heavy (H) chain of botulinum neurotoxin type A (BoNT/A) with peripheral blood lymphocytes (PBL) from 25 BoNT-treated cervical dystonia (CD) patients. In the current study, we describe the mapping of the T-cell responses of the patients to the N-terminal half (HN, residues 449-859) of the heavy chain by using 29 synthetic overlapping peptides encompassing the entire HN domain of BoNT/A...
November 15, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/27782297/botulinum-toxin-type-a-versus-botulinum-toxin-type-b-for-cervical-dystonia
#11
REVIEW
Gonçalo S Duarte, Mafalda Castelão, Filipe B Rodrigues, Raquel E Marques, Joaquim Ferreira, Cristina Sampaio, Austen P Moore, João Costa
BACKGROUND: 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, with no compelling theoretical reason why it might not be as- or even more effective - than BtA...
October 26, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27774495/impact-of-cervical-dystonia-on-work-productivity-an-analysis-from-a-patient-registry
#12
Eric S Molho, Mark Stacy, Patrick Gillard, David Charles, Charles H Adler, Joseph Jankovic, Marc Schwartz, Mitchell F Brin
BACKGROUND: Cervical dystonia is thought to result in high disease burden, but limited information exists on its impact on employment and work productivity. We utilized data from the Cervical Dystonia Patient Registry for the Observation of OnabotulinumtoxinA Efficacy (ClinicalTrials.gov identifier: NCT00836017) to assess the impact of cervical dystonia on employment and work productivity and examine the effect of onabotulinumtoxinA treatments on work productivity. METHODS: Subjects completed a questionnaire on employment status and work productivity at baseline and final visit...
March 2016: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/27753188/clinical-and-demographic-characteristics-related-to-onset-site-and-spread-of-cervical-dystonia
#13
Scott A Norris, H A Jinnah, Alberto J Espay, Christine Klein, Norbert Brüggemann, Richard L Barbano, Irene Andonia C Malaty, Ramon L Rodriguez, Marie Vidailhet, Emmanuel Roze, Stephen G Reich, Brian D Berman, Mark S LeDoux, Sarah Pirio Richardson, Pinky Agarwal, Zoltan Mari, William G Ondo, Ludy C Shih, Susan H Fox, Alfredo Berardelli, Claudia M Testa, Florence Ching-Fen Cheng, Daniel Truong, Fatta B Nahab, Tao Xie, Mark Hallett, Ami R Rosen, Laura J Wright, Joel S Perlmutter
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27733842/unmet-needs-in-the-management-of-cervical-dystonia
#14
Maria Fiorella Contarino, Marenka Smit, Joost van den Dool, Jens Volkmann, Marina A J Tijssen
Cervical dystonia (CD) is a movement disorder which affects daily living of many patients. In clinical practice, several unmet treatment needs remain open. This article focuses on the four main aspects of treatment. We describe existing and emerging treatment approaches for CD, including botulinum toxin injections, surgical therapy, management of non-motor symptoms, and rehabilitation strategies. The unsolved issues regarding each of these treatments are identified and discussed, and possible future approaches and research lines are proposed...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27721106/effects-of-cerebellar-theta-burst-stimulation-on-arm-and-neck-movement-kinematics-in-patients-with-focal-dystonia
#15
Matteo Bologna, Giulia Paparella, Andrea Fabbrini, Giorgio Leodori, Lorenzo Rocchi, Mark Hallett, Alfredo Berardelli
OBJECTIVE: To investigate the cerebellar inhibitory influence on the primary motor cortex in patients with focal dystonia using a cerebellar continuous theta-burst stimulation protocol (cTBS) and to evaluate any relationship with movement abnormalities. METHODS: Thirteen patients with focal hand dystonia, 13 patients with cervical dystonia and 13 healthy subjects underwent two sessions: (i) cTBS over the cerebellar hemisphere (real cTBS) and (ii) cTBS over the neck muscles (sham cTBS)...
November 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27713907/utility-of-electronic-medical-record-for-recruitment-in-clinical-research-from-rare-to-common-disease
#16
Tapan Thacker, Ashley R Wegele, Sarah Pirio Richardson
BACKGROUND: Recruitment for clinical trials is a major challenge. Movement disorders, which do not have associated diagnostic laboratory tests, may be especially prone to inaccuracy in coding. Our objective was to evaluate the accuracy of diagnostic codes such as cervical dystonia (CD) and PD in an electronic medical record. METHODS: Retrospective chart review was performed to confirm the ICD-9 diagnoses of PD, CD and diabetes mellitus type 2 (DM-2), using published clinical diagnostic criteria (PD, CD) and hemoglobin A1c ≥ 6...
September 2016: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/27708983/overuse-cervical-dystonia-a-case-report-and-literature-review
#17
Elliot Hogg, Michele Tagliati
BACKGROUND: Overuse or task-specific dystonia has been described in a number of professions characterized by repetitive actions, typically affecting the upper extremities. Cervical dystonia (CD), however, has rarely been associated with overuse. CASE REPORT: We present a case report of typical CD that developed in the context of chronic repetitive movements associated with the patient's professional occupation as an office manager who spent many hours per day holding a phone to his ear...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27673242/poster-498-geographic-differences-in-the-characteristics-of-cervical-dystonia-patients
#18
Richard Trosch, Vijay P Misra, Savary Om, Pascal Maisonobe
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27673052/poster-296-abobotulinumtoxina-injection-patterns-in-patients-with-cervical-dystonia-from-the-anchor-cd-registry-study
#19
Cynthia L Comella, George C Camba, Daniel Truong, Alberto J Espay, Daniel Snyder, Dominic Marchese, Richard Trosch
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27673045/poster-290-efficacy-and-safety-of-a-2-ml-dilution-of-abobotulinumtoxina-compared-with-placebo-in-adult-patients-with-cervical-dystonia
#20
Mark F Lew, George C Camba, Daniel Snyder
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
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