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Cervical dystonia

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https://www.readbyqxmd.com/read/28195407/a-pilot-trial-of-square-biphasic-pulse-deep-brain-stimulation-for-dystonia-the-bip-dystonia-study
#1
Leonardo Almeida, Daniel Martinez-Ramirez, Bilal Ahmed, Wissam Deeb, Sol De Jesus, Jared Skinner, Matthew J Terza, Umer Akbar, Robert S Raike, Chris J Hass, Michael S Okun
BACKGROUND: 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. OBJECTIVES: To assess safety and tolerability of square biphasic DBS in dystonia patients. METHODS: This study included primary generalized or cervical dystonia patients with bilateral GPi DBS. Square biphasic pulses were implemented and patients were assessed at baseline, immediately postwashout, post-30-minute washout, 1 hour post- and 2 hours postinitiation of investigational settings...
February 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28192488/does-dystonic-muscle-activity-affect-sense-of-effort-in-cervical-dystonia
#2
Loïc Carment, Marc A Maier, Sophie Sangla, Vincent Guiraud, Serge Mesure, Marie Vidailhet, Påvel G Lindberg, Jean-Pierre Bleton
BACKGROUND: Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues. METHODS: Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC)...
2017: PloS One
https://www.readbyqxmd.com/read/28186664/disruption-in-cerebellar-and-basal-ganglia-networks-during-a-visuospatial-task-in-cervical-dystonia
#3
Pavel Filip, Cécile Gallea, Stéphane Lehéricy, Eric Bertasi, Traian Popa, Radek Mareček, Ovidiu V Lungu, Tomáš Kašpárek, Jiří Vaníček, Martin Bareš
BACKGROUND: Although dystonia is traditionally conceptualized as a basal ganglia disorder, increasing interest has been directed at a different neural network node, the cerebellum, which may play a significant role in the pathophysiology of dystonia. Abnormal sensorimotor processing and disturbed motor schemes, possibly attributable to cerebellar changes, remain unclear. METHODS: We sought to characterize the extent of cerebellar dysfunction within the motor network using functional MRI activation analysis, connectivity analysis, and voxel-based morphometry in cervical dystonia patients (n = 25, 15 women, mean age 45...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28159584/botulinum-toxin-in-the-management-of-head-and-neck-disorders
#4
REVIEW
Ravleen Nagi, Deepa Jatti Patil, Shashikant Sahu, Supreet Jain, Giridhar S Naidu
Botulinum toxin is a polypeptide protoxin synthesized by Clostridium botulinum that results in localized reduction of muscle activity by inhibiting acetylcholine release at the neuromuscular junction. In 2004, the US Food and Drug Administration approved its application in the treatment of various medical conditions, such as facial wrinkles, strabismus, cervical dystonia, blepharospasm, and hyperhidrosis. Later, its application extended to improving dental esthetics and gummy smile. It was found to be a safe and effective alternative to medical therapy to treat various head and neck disorders that have a neurologic component...
December 7, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28157620/dynamic-head-neck-stabilization-in-cervical-dystonia
#5
Patrick A Forbes, Edo de Bruijn, Sebastiaan W R Nijmeijer, Johannes H T M Koelman, Frans C T van der Helm, Alfred C Schouten, Marina A J Tijssen, Riender Happee
BACKGROUND: Effective sensorimotor integration is essential to modulate (adapt) neck stabilization strategies in response to varying tasks and disturbances. This study evaluates the hypothesis that relative to healthy controls cervical dystonia patients have an impaired ability to modulate afferent feedback for neck stabilization with changes in the frequency content of mechanical perturbations. METHODS: We applied anterior-posterior displacement perturbations (110s) on the torso of seated subjects, while recording head-neck kinematics and muscular activity...
January 16, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28156208/image-guided-intrathecal-baclofen-pump-catheter-implantation-a-technical-note-and-case-series
#6
Shenandoah Robinson, Faith C Robertson, Hormuzdiyar H Dasenbrock, Cormac P O'Brien, Charles Berde, Horacio Padua
OBJECTIVE Medically refractory spasticity and dystonia are often alleviated with intrathecal baclofen (ITB) administration through an indwelling catheter inserted in the lumbar spine. In patients with cerebral palsy, however, there is a high incidence of concomitant neuromuscular scoliosis. ITB placement may be technically challenging in those who have severe spinal deformity or who have undergone prior instrumented thoracolumbar fusion. Although prior reports have described drilling through the lumbar fusion mass with a high-speed bur, as well as IT catheter implantation at the foramen magnum or cervical spine, these approaches have notable limitations...
February 3, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28138245/quality-of-life-in-cervical-dystonia-after-treatment-with-botulinum-toxin-a-a-24-week-prospective-study
#7
Subsai Kongsaengdao, Benchalak Maneeton, Narong Maneeton
OBJECTIVE: This study aimed to identify possible improvements in disease-specific health-related quality of life (HRQoL) after multiple injections of botulinum toxin A over 24 weeks in Thai cervical dystonia (CD) patients. MATERIALS AND METHODS: A 24-week prospective study comparing HRQoL of Thai CD patients before and after multiple injections of botulinum toxin A at 3-month intervals was performed. Disease-specific HRQoL was assessed by using the Cervical Dystonia Impact Profile-58 questionnaire (CDIP-58) and the Craniocervical Dystonia Questionnaire-24 (CDQ-24)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28131194/plasticity-of-static-graviceptive-function-in-patients-with-cervical-dystonia
#8
Kirsten Platho-Elwischger, Gottfried Kranz, Thomas Sycha, Daniela Dunkler, Paulus Rommer, Christian Mueller, Eduard Auff, Gerald Wiest
No abstract text is available yet for this article.
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28119789/integration-of-osteopathic-manual-treatments-in-management-of-cervical-dystonia-with-tremor-a-case-series
#9
Miriam Halimi, Adena Leder, Jayme D Mancini
BACKGROUND: Cervical dystonia, also known as spasmodic torticollis, is a chronic disorder in which patients exhibit involuntary repetitive contractions of neck muscles resulting in abnormal postures or movements. Occasionally, there is also a dystonic head tremor. The underlying mechanisms for cervical dystonia and dystonic tremor are not clear, and treatments are limited. CASE REPORT: In the present cases, two females with head tremor starting in adolescence developed worsening symptoms of cervical dystonia with dystonic tremor in their 60s...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28054172/the-occurrence-of-lateral-shift-in-cervical-dystonia
#10
Marcello Esposito, Silvio Peluso, Raffaele Dubbioso, Roberto Allocca, Filippo Iorillo, Antonietta Coppola, Lucio Santoro
Aim of this study is to identify factors contributing the occurrence of neck lateral shift (LS) in patients with cervical dystonia (CD). A retrospective analysis focused on the treatment with botulinum toxin (BTX) was conducted on 38 consecutive idiopathic CD patients comparing subjects with and without LS. The main result was the evidence of a significantly higher BTX inter-side dose difference in patients with LS suggesting that this uncommon phenotype may be an artifact of chronic therapy with BTX.
January 4, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28017556/bilateral-globus-pallidus-internus-deep-brain-stimulation-for-dyskinetic-cerebral-palsy-supports-success-of-cochlear-implantation-in-a-5-year-old-ex-24%C3%A2-week-preterm-twin-with-absent-cerebellar-hemispheres
#11
Jean-Pierre Lin, Margaret Kaminska, Sarah Perides, Hortensia Gimeno, Lesley Baker, Daniel E Lumsden, Anzell Britz, Sandra Driver, Alec Fitzgerald-O'Connor, Richard Selway
BACKGROUND: Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and truncal dystonia brushes off the magnetic amplifier behind the ears. Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) neuromodulation can reduce dyskinesia, thus supporting CI neuromodulation success...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28017205/meige-s-syndrome-history-epidemiology-clinical-features-pathogenesis-and-treatment
#12
REVIEW
Sanjay Pandey, Soumya Sharma
'Meige's syndrome' is a type of cranial dystonia characterized by blepharospasm and oromandibular dystonia and can be associated with complex movement of lower facial muscles, mouth, jaw, tongue, pharyngeal and cervical muscles. Frequently, blepharospasm is the earliest clinical manifestation, which spreads over a period of time to involve other cranial and extra-cranial muscles. Common characteristics of this syndrome are well known, but their variety is wide. Different eponyms such as "Breughel syndrome", "Wood syndrome", "Blepharospasm plus", "Segmental cranial dystonia" and "Segmental cranio-cervical dystonia" have been used to describe this entity with numerous anatomical variations...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28003807/corrigendum-unmet-needs-in-the-management-of-cervical-dystonia
#13
Maria Fiorella Contarino, Marenka Smit, Joost van den Dool, Jens Volkmann, Marina A J Tijssen
[This corrects the article on p. 165 in vol. 7, PMID: 27733842.].
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27992417/mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#14
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27970894/cost-utility-analysis-of-two-type-a-botulinum-toxins-in-the-management-of-blepharospasm-and-cervical-dystonia-in-spain
#15
Á Sanz-Granda
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27970891/cost-effectiveness-of-incobotulinumtoxin-a-with-flexible-treatment-intervals-compared-to-fixed-treatment-intervals-in-the-management-of-blepharospasm-and-cervical-dystonia
#16
D Tilden, C Guarnieri
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27939583/functional-genomic-analyses-of-mendelian-and-sporadic-disease-identify-impaired-eif2%C3%AE-signaling-as-a-generalizable-mechanism-for-dystonia
#17
Joseph E Rittiner, Zachary F Caffall, Ricardo Hernández-Martinez, Sydney M Sanderson, James L Pearson, Kaylin K Tsukayama, Anna Y Liu, Changrui Xiao, Samantha Tracy, Miranda K Shipman, Patrick Hickey, Julia Johnson, Burton Scott, Mark Stacy, Rachel Saunders-Pullman, Susan Bressman, Kristina Simonyan, Nutan Sharma, Laurie J Ozelius, Elizabeth T Cirulli, Nicole Calakos
Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias are currently unknown. Here, we discover a role for deficient eIF2α signaling in DYT1 dystonia, a rare inherited generalized form, through a genome-wide RNAi screen. Subsequent experiments including patient-derived cells and a mouse model support both a pathogenic role and therapeutic potential for eIF2α pathway perturbations...
December 21, 2016: Neuron
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
#18
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
#19
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...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#20
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...
February 2017: Headache
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