keyword
MENU ▼
Read by QxMD icon Read
search

Focal dystonia

keyword
https://www.readbyqxmd.com/read/28099169/a-comparison-of-stimulus-presentation-methods-in-temporal-discrimination-testing
#1
Eavan M Mc Govern, John S Butler, Ines Beiser, Laura Williams, Brendan Quinlivan, Shruti Narasiham, Rebecca Beck, Sean O'Riordan, Richard B Reilly, Michael Hutchinson
The temporal discrimination threshold (TDT) is the shortest time interval at which an individual detects two stimuli to be asynchronous (normal  =  30-50 ms). It has been shown to be abnormal in patients with disorders affecting the basal ganglia including adult onset idiopathic focal dystonia (AOIFD). Up to 97% of patients have an abnormal TDT with age- and sex-related penetrance in unaffected relatives, demonstrating an autosomal dominant inheritance pattern. These findings support the use of the TDT as a pre-clinical biomarker for AOIFD...
January 18, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28099161/menstrual-cycle-and-the-temporal-discrimination-threshold
#2
Eavan M Mc Govern, Emer O'Connor, Ines Beiser, Laura Williams, John S Butler, Brendan Quinlivan, Shruti Narasiham, Rebecca Beck, Richard B Reilly, Sean O'Riordan, Michael Hutchinson
The temporal discrimination threshold (TDT) is a proposed pre-clinical biomarker (endophenotype) for adult onset isolated focal dystonia (AOIFD). Age- and sex-related effects on temporal discrimination demonstrate that women, before the age of 40 years, have faster temporal discrimination than men but their TDTs worsen with age at almost three times the rate of men. Thus after 40 years the TDT in women is progressively worse than in men. AOIFD is an increasingly female-predominant disorder after the age of 40; it is not clear whether this age-related sexually-dimorphic difference observed for both the TDT and sex ratio at disease onset in AOIFD is a hormonal or chromosomal effect...
January 18, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28081261/the-role-of-tor1a-polymorphisms-in-dystonia-a-systematic-review-and-meta-analysis
#3
Vasileios Siokas, Efthimios Dardiotis, Evangelia E Tsironi, Georgios Tsivgoulis, Dimitrios Rikos, Maria Sokratous, Stylianos Koutsias, Konstantinos Paterakis, Georgia Deretzi, Georgios M Hadjigeorgiou
IMPORTANCE: A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution. METHODS: We performed a systematic review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia...
2017: PloS One
https://www.readbyqxmd.com/read/28077492/dystonia-treatment-patterns-of-medication-use-in-an-international-cohort
#4
Sarah Pirio Richardson, Ashley R Wegele, Betty Skipper, Amanda Deligtisch, H A Jinnah
OBJECTIVE: To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study. METHODS: In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity)...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28063895/improvement-of-table-tennis-dystonia-by-stereotactic-ventro-oral-thalamotomy-a-case-report
#5
Takashi Asahi, Takaomi Taira, Kiyonobu Ikeda, Jiro Yamamoto, Shuji Sato
BACKGROUND: Task-specific focal dystonia, such as writer's cramp and musician's cramp, is a type of dystonia that affects performance of particular tasks. Such movement disorders have been treated with stereotactic ventro-oral (Vo) thalamotomy, with excellent outcomes. However, there has been no previous report of treatment of sport-related/athlete's dystonia by means of stereotactic surgery. We treated a patient with table tennis-related dystonia with Vo thalamotomy, and evaluated the outcome...
January 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28039522/focal-task-specific-dystonia-a-review-and-update
#6
Christine M Stahl, Steven J Frucht
In this review, we summarize recent advances in understanding the etiology, risk factors and pathophysiology of focal task specific dystonia (FTSD), movement disorders characterized by abnormal motor activation during the performance of specific, repetitive actions. We focus on two common FTSD, musician's dystonia and writer's cramp. FTSD may pose a threat to the patient's livelihood, and improved therapeutic treatments are needed.
December 30, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/28027860/from-nocturnal-frontal-lobe-epilepsy-to-sleep-related-hypermotor-seizures-a-35-year-diagnostic-challenge
#7
Paolo Tinuper, Francesca Bisulli
Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex, often bizarre, motor behavior or sustained dystonic posturing. First described in 1981, it was initially considered a motor disorder of sleep and was named nocturnal paroxysmal dystonia (NPD). The unusual seizure semiology, onset during sleep, and often uninformative scalp EEG and brain MRI make it difficult to distinguish NPD attacks from other non-epileptic nocturnal paroxysmal events, namely parasomnias...
December 15, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28017248/treatment-of-blepharospasm-with-apraclonidine
#8
Dhanya Vijayakumar, Subhashie Wijemanne, Joseph Jankovic
OBJECTIVE: To describe improvement in blepharospasm with apraclonidine. BACKGROUND: Blepharospasm is a focal dystonia involving chiefly the orbicularis oculi and periocular muscles resulting in involuntary sustained eyelid closure. Botulinum toxin injection is the mainstay of treatment with meaningful improvement in over 85% of patients, but the effects often wear off within 3-4months. Apraclonidine is an alpha-2 adrenergic receptor agonist, which causes contraction of superior tarsal (Müller) muscle which may improve blepharospasm-related eyelid closure...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28017205/meige-s-syndrome-history-epidemiology-clinical-features-pathogenesis-and-treatment
#9
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/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
January 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27825543/mild-parkinsonian-features-in-dystonia-literature-review-mechanisms-and-clinical-perspectives
#16
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
#17
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
#18
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
#19
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...
December 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
#20
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
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"