keyword
MENU ▼
Read by QxMD icon Read
search

Focal dystonia

keyword
https://www.readbyqxmd.com/read/28217105/how-many-dystonias-clinical-evidence
#1
REVIEW
Alberto Albanese
Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28215037/the-italian-dystonia-registry-rationale-design-and-preliminary-findings
#2
Giovanni Defazio, M Esposito, G Abbruzzese, C L Scaglione, G Fabbrini, G Ferrazzano, S Peluso, R Pellicciari, A F Gigante, G Cossu, R Arca, L Avanzino, F Bono, M R Mazza, L Bertolasi, R Bacchin, R Eleopra, C Lettieri, F Morgante, M C Altavista, L Polidori, R Liguori, S Misceo, G Squintani, M Tinazzi, R Ceravolo, E Unti, L Magistrelli, M Coletti Moja, N Modugno, M Petracca, N Tambasco, M S Cotelli, M Aguggia, A Pisani, M Romano, M Zibetti, A R Bentivoglio, A Albanese, P Girlanda, A Berardelli
The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy...
February 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28192488/does-dystonic-muscle-activity-affect-sense-of-effort-in-cervical-dystonia
#3
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/28186662/blepharospasm-40-years-later
#4
REVIEW
Giovanni Defazio, Mark Hallett, Hyder A Jinnah, Antonella Conte, Alfredo Berardelli
Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186656/phenotype-and-genotype-specific-structural-alterations-in-spasmodic-dysphonia
#5
Serena Bianchi, Giovanni Battistella, Hailey Huddleston, Rebecca Scharf, Lazar Fleysher, Anna F Rumbach, Steven J Frucht, Andrew Blitzer, Laurie J Ozelius, Kristina Simonyan
BACKGROUND: Spasmodic dysphonia is a focal dystonia characterized by involuntary spasms in the laryngeal muscles that occur selectively during speaking. Although hereditary trends have been reported in up to 16% of patients, the causative etiology of spasmodic dysphonia is unclear, and the influences of various phenotypes and genotypes on disorder pathophysiology are poorly understood. In this study, we examined structural alterations in cortical gray matter and white matter integrity in relationship to different phenotypes and putative genotypes of spasmodic dysphonia to elucidate the structural component of its complex pathophysiology...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28169979/acute-focal-dystonia-after-a-single-dose-of-oral-cetirizine-in-a-9-year-old-boy
#6
Indar Kumar Sharawat, Lesa Dawman
Common cold is an acute illness affecting pediatric population in particular. The use of antihistamines is a common practice, with cetirizine being a frequently used drug with a good safety profile. However, adverse events due to the use of antihistamines have been rarely reported, such as drug-induced dystonia with the use of cetirizine. In our present case, dystonia due to the intake of cetirizine was observed, which the patient responded well to the use of benzodiazapines, namely, clonazepam. We report this case to highlight the occurrence of this adverse event with the use of cetirizine...
February 4, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28120046/music-and-mind-in-memoriam-professor-carlo-alberto-pagni-md-phd-february-13-1931-march-1-2009
#7
Klaus R H von Wild
Carlo Alberto Pagni, born in La Spezia, Italy, on February 13, 1931, was an eminent and respected professor of neurosurgery and chairman of the neurosurgical clinic of the University of Turin from 1980 to 2003. He died on March 1, 2009. As a professor of neurology and neurological surgery he was renowned as an expert on vascular, tumor, and functional neurosurgery. Beyond the Italian Neurosurgical Society, he was the doyen of functional neurosurgery, specializing in motor cortex stimulation for the treatment of focal dystonia, Parkinson's disease, and postictal spasticity and pain...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/28113638/haptic-feedback-manipulation-during-botulinum-toxin-injection-therapy-for-focal-hand-dystonia-patients-a-possible-new-assistive-strategy
#8
Seyed Farokh Atashzar, Mahya Shahbazi, Christopher Ward, Olivia Samotus, Mehdi Delrobaei, Fariborz Rahimi, Jack Lee, Mallory Jackman, Mandar Jog, Rajni Patel
Abnormality of sensorimotor integration in the basal ganglia and cortex has been reported in the literature for patients with task-specific focal hand dystonia (FHD). In this study, we investigate the effect of manipulation of kinesthetic input in people living with writer's cramp disorder (a major form of FHD). For this purpose, severity of dystonia is studied for 11 participants while the symptoms of 7 participants have been tracked during 5 sessions of assessment and Botulinum toxin injection (BoNT-A) therapy (one of the current suggested therapies for dystonia)...
August 19, 2016: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28099169/a-comparison-of-stimulus-presentation-methods-in-temporal-discrimination-testing
#9
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
#10
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
#11
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
#12
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)...
February 7, 2017: Neurology
https://www.readbyqxmd.com/read/28063895/improvement-of-table%C3%A2-tennis-dystonia-by-stereotactic-ventro-oral-thalamotomy-a-case-report
#13
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 or 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 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28039522/focal-task-specific-dystonia-a-review-and-update
#14
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
#15
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
#16
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
#17
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
#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/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#19
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
https://www.readbyqxmd.com/read/27891079/contribution-of-tms-and-rtms-in-the-understanding-of-the-pathophysiology-and-in-the-treatment-of-dystonia
#20
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
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"