keyword
MENU ▼
Read by QxMD icon Read
search

Focal dystonia

keyword
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/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#2
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/27891079/contribution-of-tms-and-rtms-in-the-understanding-of-the-pathophysiology-and-in-the-treatment-of-dystonia
#3
REVIEW
Pierre Lozeron, Aurélia Poujois, Alexandra Richard, Sana Masmoudi, Elodie Meppiel, France Woimant, Nathalie Kubis
Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27871456/a-prognostic-factor-in-focal-hand-dystonia-typist-s-cramp-cases-and-literature-review
#4
Jee Hyun Ham, Sang Jin Kim, Sook Keun Song, Chul Hyoung Lyoo, Phil Hyu Lee, Young Ho Sohn, Suk Yun Kang
The prognosis of focal hand dystonia (FHD) remains unclear. We retrospectively studied six patients with typist's cramp in our hospitals, and five cases in the PubMed database. All of them were right-handed. We compared clinical features between simple (dystonia in only one specific task), and dystonic/progressive groups (dystonia in several and/or new tasks). The initially affected right hand ratio was significantly higher in dystonic/progressive groups than in simple group (p=0.015). Initially affected hand may be a predictor for the progression, implying that the progression may be associated with the amount of daily routine hand movements...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27855656/combined-focal-myoclonus-and-dystonia-secondary-to-a-cerebellar-hemorrhage-a-case-report
#5
Guangxun Shen, Guangxian Nan, Chae-Won Shin, Hyeyoung Park, Kwee-Yum Lee, Beomseok Jeon
BACKGROUND: Myoclonus is a clinical sign characterized by sudden, brief jerky, shock-like involuntary movements of a muscle or group of muscles. Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Cases of myoclonus or dystonia secondary to a structural lesion in the cerebellum have been reported. However, there has never been a reported case of combined myoclonus and dystonia secondary to a cerebellar lesion...
November 17, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27836806/hypometric-anticipatory-postural-adjustments-in-dystonia-are-not-affected-by-deep-brain-stimulation-of-globus-pallidus-internus
#6
Gregor Brecl Jakob, Olena Pelykh, Annika Plate, Zuzana Košutzká, Zvezdan Pirtošek, Maja Trošt, Joseph Ilmberger, Peter Valkovic, Jan H Mehrkens, Kai Bötzel
BACKGROUND: Dystonia is a movement disorder with patterned, directional, and often sustained muscle contractions that produce abnormal postures or repetitive movements. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is an effective and safe treatment for medically refractory dystonia. However, recent studies reported gait problems, gait freezing and falls in patients treated with DBS. Because these symptoms may point to deficient gait initiation processes, we systematically assessed the anticipatory postural adjustments (APAs) prior to stepping in dystonia patients with GPi-DBS...
November 9, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27825543/mild-parkinsonian-features-in-dystonia-literature-review-mechanisms-and-clinical-perspectives
#7
REVIEW
Lucy Haggstrom, Paul Darveniza, Stephen Tisch
Dystonia is a hyperkinetic movement disorder that can be highly stigmatizing and disabling. Substantial evidence from animal models, neuropathological, neurophysiological, neuroimaging and clinical studies emphasizes the role of dopaminergic dysfunction in the pathophysiology of dystonia, illustrating possible pathophysiological overlap with parkinsonism. Furthermore, basal ganglia dysfunction has been implicated in the pathogenesis of dystonia, and is well established to underlie the manifestations of Parkinson's disease...
October 29, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27797864/neurofibromatosis-type-1-focal-dystonia-associated-with-a-malignant-peripheral-nerve-sheath-tumour-a-video-illustrated-case
#8
Teresa Sequeira, João Nuno Oliveira, Ana Ramos Sequeira, Sara M Rocha
No abstract text is available yet for this article.
October 20, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27789132/novel-hyperkinetic-dystonia-like-manifestation-and-neurological-disease-course-of-swedish-gaucher-patients
#9
Maciej Machaczka, Martin Paucar, Cecilia Kämpe Björkvall, Nicholas J C Smith, Timothy M Cox, Lars Forsgren, Per Svenningsson
BACKGROUND: Neuronopathic Gaucher disease type 3 (GD3) is frequent in northern Sweden, whereas GD1 is found throughout the country. In a nation-wide study, we examined neurological manifestations and clinical course in 12 patients with GD3 and 13 patients with GD1. METHODS: The patients were evaluated by standardized neurological assessments. Every sixth month, the GD3 patients were rated with the modified Severity Scoring Tool. At baseline and at the 3years follow-up, patients underwent University of Pennsylvania Smell Identification Test, Montreal Cognitive Assessment and Hospital Anxiety and Depression Scale...
October 21, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27787939/is-failed-predictive-control-a-risk-factor-for-focal-dystonia
#10
Peter Stein, Elliot Saltzman, Kenneth Holt, Dagmar Sternad
INTRODUCTION: Task-specific focal dystonia (TSFD) is a disorder marked by degraded coordination in complex and exacting psychomotor tasks, such as musical performance. Its development is associated with prolonged and intensive practice of these tasks, but the etiology of TSFD is still unknown. The prevailing hypothesis was informed by findings in primates following repetitive simple grasping actions. This model implies, however, that complex manual tasks that yield more intricate and subtly varying sensorimotor patterns, as found in musical performance and handwriting, should be unlikely to lead to focal dystonia...
October 27, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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/27773588/differences-in-active-range-of-motion-measurements-in-the-upper-extremity-of-patients-with-writer-s-cramp-compared-with-healthy-controls
#12
Prachaya Srivanitchapoom, Ejaz A Shamim, Pierre Diomi, Takaaki Hattori, Sanjay Pandey, Sherry Vorbach, Jung E Park, Tianxia Wu, Sungyoung Auh, Mark Hallett
STUDY DESIGN: Exploratory case-control study. INTRODUCTION: Writer's cramp (WC) is a type of focal hand dystonia. The central nervous system plays a role in its pathophysiology, but abnormalities in the affected musculoskeletal components may also be relevant. PURPOSE OF THE STUDY: We compared the active range of motion (ROM) in patients with WC and healthy volunteers (HVs) and correlated the findings with disease duration and severity. METHODS: Affected limb joints were measured with goniometers...
October 2016: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
https://www.readbyqxmd.com/read/27771228/dyt2-screening-in-early-onset-isolated-dystonia
#13
Miryam Carecchio, Chiara Reale, Federica Invernizzi, Valentina Monti, Simona Petrucci, Monia Ginevrino, Francesca Morgante, Giovanna Zorzi, Federica Zibordi, Anna Rita Bentivoglio, Enza Maria Valente, Nardo Nardocci, Barbara Garavaglia
BACKGROUND: Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term "DYT2 dystonia". Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. METHODS: 73 patients with isolated dystonia of various distribution, manifesting within 21 years of age, were enrolled in this Italian study and underwent a mutational screening of HPCA gene by means of Sanger sequencing...
October 13, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27753188/clinical-and-demographic-characteristics-related-to-onset-site-and-spread-of-cervical-dystonia
#14
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/27746043/brain-activity-in-patients-with-adductor-spasmodic-dysphonia-detected-by-functional-magnetic-resonance-imaging
#15
Asanori Kiyuna, Norimoto Kise, Munehisa Hiratsuka, Shunsuke Kondo, Takayuki Uehara, Hiroyuki Maeda, Akira Ganaha, Mikio Suzuki
OBJECTIVES: Spasmodic dysphonia (SD) is considered a focal dystonia. However, the detailed pathophysiology of SD remains unclear, despite the detection of abnormal activity in several brain regions. The aim of this study was to clarify the pathophysiological background of SD. STUDY DESIGN: This is a case-control study. METHODS: Both task-related brain activity measured by functional magnetic resonance imaging by reading the five-digit numbers and resting-state functional connectivity (FC) measured by 150 T2-weighted echo planar images acquired without any task were investigated in 12 patients with adductor SD and in 16 healthy controls...
October 13, 2016: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/27731537/transcranial-sonography-in-dopa-responsive-dystonia
#16
M Svetel, A Tomić, M Mijajlović, V Dobričić, I Novaković, T Pekmezović, L Brajković, V S Kostić
BACKGROUND AND PURPOSE: Mutations in the GCH1 gene, encoding GTP cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (DRD), characterized predominantly by limb dystonia, although parkinsonian features may also be present. It has been suggested that DRD is a neurochemical rather than neurodegenerative disorder. METHODS: Transcranial brain sonography, which might be a risk marker for nigral injury, was obtained from 141 subjects divided into four groups: (i) 11 patients with genetically confirmed DRD; (ii) 55 consecutive patients with Parkinson's disease (PD); (iii) 30 patients diagnosed as isolated adult-onset focal dystonia; and (iv) 45 healthy controls (HCs)...
October 12, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27721106/effects-of-cerebellar-theta-burst-stimulation-on-arm-and-neck-movement-kinematics-in-patients-with-focal-dystonia
#17
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/27715491/objective-evaluation-of-performance-stress-in-musicians-with-focal-hand-dystonia-a-case-series
#18
Christos I Ioannou, Shinichi Furuya, Eckart Altenmüller
Five musicians suffering from focal dystonia participated in a pilot study that examined the feasibility of an experimental protocol designed to assess musicians' motor performance under stress. Electrocardiography, free cortisol levels, and subjective assessments were used to monitor alterations of the hypothalamic-pituitary-adrenal axis. As measures of motor outcome, temporal variability of finger movements and muscular cocontraction of the wrist flexor and extensor were assessed. Findings suggest that the specific experimental design could be successfully applied...
August 11, 2016: Journal of Motor Behavior
https://www.readbyqxmd.com/read/27696930/dopamine-drd2-polymorphism-drd2-annk1-taq1a-is-not-a-significant-risk-factor-in-writer-s-cramp
#19
Kirsten E Zeuner, Albert Acewicz, Arne Knutzen, Dirk Dressler, Katja Lohmann, Karsten Witt
Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls...
October 4, 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27693997/mental-rotation-and-working-memory-in-musicians-dystonia
#20
Roberto Erro, Stephanie T Hirschbichler, Lucia Ricciardi, Agata Ryterska, Elena Antelmi, Christos Ganos, Carla Cordivari, Michele Tinazzi, Mark J Edwards, Kailash P Bhatia
BACKGROUND: Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts...
September 28, 2016: Brain and Cognition
keyword
keyword
58211
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"