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Focal dystonia

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https://www.readbyqxmd.com/read/29677101/electromyographic-and-joint-kinematic-patterns-in-runner-s-dystonia
#1
Omar F Ahmad, Pritha Ghosh, Christopher Stanley, Barbara Karp, Mark Hallett, Codrin Lungu, Katharine Alter
Runner’s dystonia (RD) is a task-specific focal dystonia of the lower limbs that occurs when running. In this retrospective case series, we present surface electromyography (EMG) and joint kinematic data from thirteen patients with RD who underwent instrumented gait analysis (IGA) at the Functional and Biomechanics Laboratory at the National Institutes of Health. Four cases of RD are described in greater detail to demonstrate the potential utility of EMG with kinematic studies to identify dystonic muscle groups in RD...
April 20, 2018: Toxins
https://www.readbyqxmd.com/read/29652307/-therapy-of-asthenoneurotic-syndrome-in-patients-with-focal-muscular-dystonia
#2
V A Suvorova, E A Antipenko
AIM: To analyze the prevalence and structure of asthenoneurotic disorders in patients with focal muscular dystonia and determine an effect of the anxiolytic аdaptol (tetramethyltetraazabicyclooctandion) on asthenic syndrome in muscular dystonia. MATERIAL AND METHODS: Forty patients with focal muscular dystonia were examined. The severity of asthenic syndrome (MFI-20), anxiety (the Hospital scale of anxiety and depression) and depression (the Hamilton Depression Rating Scale) were evaluated...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29649646/simultaneous-treatment-of-epilepsy-and-secondary-dystonia-after-anterior-temporal-lobectomy-and-amygdalohippocampectomy
#3
Lily Rasouli, Jonathan J Rasouli, Fedor Panov, Ji Yeoun Yoo, Patricia E McGoldrick, Saadi Ghatan
BACKGROUND: The relationship between temporal lobe epilepsy and focal limb dystonia is a well-recognized phenomenon, yet its pathogenesis and anatomical foundation are not well understood. Here, we describe two patients with refractory focal epilepsy and contralateral focal limb dystonia whose seizures and dystonic symptoms simultaneously resolved after anterior temporal lobectomy and amygdalohippocampectomy (ATLAH). CASE DESCRIPTION: We identified two patients within the Mount Sinai Health system with improvement in dystonia after medial temporal lobectomy...
April 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29644724/a-novel-missense-mutation-in-grin2a-causes-a-nonepileptic-neurodevelopmental-disorder
#4
Ana Fernández-Marmiesse, Hirofumi Kusumoto, Saray Rekarte, Iria Roca, Jin Zhang, Scott J Myers, Stephen F Traynelis, Mª Luz Couce, Luis Gutierrez-Solana, Hongjie Yuan
BACKGROUND: Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. However, thus far, mutations in this gene have not been associated with a nonepileptic neurodevelopmental disorder with dystonia. OBJECTIVES: The objective of this study was to identify the disease-causing gene in 2 siblings with neurodevelopmental and movement disorders with no epileptiform abnormalities...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29607243/hereditary-myoclonus-dystonia-a-novel-sgce-variant-and-phenotype-including-intellectual-disability
#5
David G Coughlin, Tanya M Bardakjian, Meredith Spindler, Andres Deik
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)- SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant. Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29605502/corrigendum-to-dopaminergic-involvement-in-a-drummer-with-focal-dystonia-a-case-study-clin-neurol-neurosurg-2018-166-march-54-55
#6
T Schirinzi, S Scalise, G Di Lazzaro, R Cerroni, A Chiaravalloti, P Lavorenti Figueras, M Pierantozzi, A Pisani, A Stefani
No abstract text is available yet for this article.
March 28, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29603387/genotype-phenotype-correlations-dystonia-and-disease-progression-in-spinocerebellar-ataxia-type-14
#7
Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, Nourelhoda A Haridy, Alaa Khan, Stephanie Efthymiou, Esther B E Becker, Emer O'Connor, Joshua Hersheson, Katrina Newland, Allan Thomas Hojland, Pernille A Gregersen, Suzanne G Lindquist, Michael B Petersen, Jørgen E Nielsen, Michael Nielsen, Nicholas W Wood, Paola Giunti, Henry Houlden
BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. METHODS: Using next generation sequencing, we screened 194 families with autosomal dominant cerebellar ataxia and normal polyglutamine repeats. In-depth phenotyping was performed using validated clinical rating scales neuroimaging and electrophysiological investigations...
March 30, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29577305/aberrant-cortical-excitability-reflects-the-loss-of-hand-dexterity-in-musician-s-dystonia
#8
Shinichi Furuya, Kazumasa Uehara, Takashi Sakamoto, Takashi Hanakawa
Focal task-specific dystonia (FTSD) compromises dexterous movements. A proposed pathophysiological mechanism of FTSD involves malfunction of the motor cortex (M1). However, no evidence is yet available regarding whether and how malfunctions of M1 are responsible for the loss of motor dexterity. Here, we addressed this issue by assessing both M1 excitability and detailed movement parameters, as well as their relationships. Transcranial magnetic stimulation was applied over M1 in twenty pianists with FTSD, twenty healthy pianists, and twenty non-musicians...
March 25, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29527184/how-many-types-of-dystonia-pathophysiological-considerations
#9
REVIEW
Angelo Quartarone, Diane Ruge
Dystonia can be seen in a number of different phenotypes that may arise from different etiologies. The pathophysiological substrate of dystonia is related to three lines of research. The first postulate a loss of inhibition which may account for the excess of movement and for the overflow phenomena. A second abnormality is sensory dysfunction which is related to the mild sensory complaints in patients with focal dystonias and may be responsible for some of the motor dysfunction. Finally, there are strong pieces of evidence from animal and human studies suggesting that alterations of synaptic plasticity characterized by a disruption of homeostatic plasticity, with a prevailing facilitation of synaptic potentiation may play a pivotal role in primary dystonia...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29503330/botulinum-toxin-in-movement-disorders
#10
REVIEW
Priyanka Tater, Sanjay Pandey
Botulinum toxin has gained immense popularity since its introduction for therapeutic use. It is used in a variety of movement disorders like hemi-facial spasm, focal dystonias like blepharospasm, cervical dystonia, oromandibular dystonia, limb dystonias. It is also being used in patients with tremors, tics and for a variety of indications in Parkinson's disease as well. There are eight subtypes of toxins available, but type A and B are the ones used in movement disorder clinics. The toxin mainly acts by inhibiting the release of acetylcholine at the neuromuscular junction and causing weakness...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29503327/dystonia-a-review
#11
REVIEW
Amit Batla
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions that cause abnormal repetitive movements, abnormal postures, or both. The new consensus classifies dystonia into two axes to characterize clinical characteristics, and etiology. This system allows correct identification of isolated and combined forms of dystonia and retains the description of generalized and focal dystonia which is very useful in planning investigations and management. The characterization of dystonia for its better identification and a brief overview of its management are discussed in this article...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29482711/botulinum-toxin-a-and-task-specific-training-for-hand-dystonia-due-to-5-year-old-stroke
#12
Tahir Masood, Muhammad Umar
Focal hand dystonia after stroke, a result of maladaptive plasticity, impairs hand function, affects daily activities, and undermines independence. A 59-year male patient, who had developed focal hand dystonia after suffering from ischemic stroke 5 years ago, received training following an injection of Botulinum Toxin A (BoNTA). Task-specific training for a duration of 60 minutes per day for 3 days per week was provided for 12 weeks. Assessments were done by using arm dystonia disability scale, action research arm test, Fugl-Meyer assessment of upper extremity, and stroke-specific quality of life...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29460980/quantitative-clinically-relevant-acoustic-measurements-of-focal-embouchure-dystonia
#13
Aimee E Morris, Scott A Norris, Joel S Perlmutter, Jonathan W Mink
BACKGROUND: Focal embouchure dystonia impairs orofacial motor control in wind musicians and causes professional disability. A paucity of quantitative measures or rating scales impedes the objective assessment of treatment efficacy. OBJECTIVES: We quantified specific features of focal embouchure dystonia using acoustic measures and developed a metric to assess severity across multiple domains of symptomatic impairment. METHODS: We recruited 9 brass musicians with and 6 without embouchure dystonia...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29453996/systematic-review-of-botulinum-toxin-treatment-for-oromandibular-dystonia
#14
Cynthia L Comella
Oromandibular dystonia (OMD) is an isolated focal dystonia that affects the muscles of the jaw, lower face and tongue. It is a rare disorder but is associated with significant impairment in quality of life. Treatment with oral medications has not been successful. Surgical interventions, such as deep brain stimulation, may be of benefit but have not been adequately evaluated. Currently, botulinum toxin (BoNT) injections are regarded as the treatment of choice for OMD. However, the evidence supporting this is not available...
February 14, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29443021/measurement-analysis-of-the-temporal-discrimination-threshold-applied-to-cervical-dystonia
#15
Rebecca B Beck, Eavan M McGovern, John S Butler, Dorina Birsanu, Brendan Quinlivan, Ines Beiser, Shruti Narasimham, Sean O'Riordan, Michael Hutchinson, Richard B Reilly
The temporal discrimination threshold (TDT) is the shortest time interval at which an observer can discriminate two sequential stimuli as being asynchronous (typically 30-50 ms). It has been shown to be abnormal (prolonged) in neurological disorders, including cervical dystonia, a phenotype of adult onset idiopathic isolated focal dystonia. The TDT is a quantitative measure of the ability to perceive rapid changes in the environment and is considered indicative of the behavior of the visual neurons in the superior colliculus, a key node in covert attentional orienting...
January 27, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29423776/full-recovery-from-drummer-s-dystonia-with-foot-and-arm-symptoms-after-stereotactic-ventro-oral-thalamotomy-a-case-report
#16
Takashi Asahi, Takaomi Taira, Kiyonobu Ikeda, Jiro Yamamoto, Shuji Sato
Ventro-oral (Vo) thalamotomy is effective in patients with focal task-specific dystonias (FTSDs), but only in those with upper-limb symptoms. We describe a patient with drummer's dystonia who completely recovered after Vo thalamotomy. A 37-year-old man who started playing drums at 14 began having difficulty performing fine movements with his right foot when drumming at 22. He experienced right hand cramps while drumming 3 months before visiting our hospital. He was diagnosed with FTSD. Left Vo thalamotomy was performed, which led to complete improvement of symptoms...
February 8, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29414563/genital-automatisms-reappraisal-of-a-remarkable-but-ignored-symptom-of-focal-seizures
#17
Hava Özlem Dede, Nerses Bebek, Candan Gürses, Leyla Baysal-Kıraç, Betül Baykan, Ayşen Gökyiğit
OBJECTIVES: Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals. The aim of this study was to determine the lateralizing and localizing value and associated clinical characteristics of GAs. METHODS: Three hundred thirteen consecutive patients with drug-resistant seizures who were referred to our tertiary center for presurgical evaluation between 2009 and 2016 were investigated...
February 1, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29408773/dopaminergic-involvement-in-a-drummer-with-focal-dystonia-a-case-study
#18
Tommaso Schirinzi, Simona Scalise, Giulia Di Lazzaro, Rocco Cerroni, Agostino Chiaravalloti, Pamela Lavorenti Figueras, Mariangela Pierantozzi, Antonio Pisani, Alessandro Stefani
Musician's Dystonia (MD) represents an intriguing disorder with rich phenomenology and unclear pathophysiology. We observed a MD affecting left upper limb in a professional drummer. DaT-Scan revealed slight reduced uptake in the right putamen; no extrapyramidal or other neurological signs emerged in 2.5 years of follow up. The case offers insight on dopaminergic involvement in MD.
January 29, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29407165/towards-flexible-and-tailored-botulinum-neurotoxin-dosing-regimens-for-focal-dystonia-and-spasticity-insights-from-recent-studies
#19
Jörg Wissel
Botulinum neurotoxin (BoNT) is an effective, well-tolerated, and well-established option for the treatment of dystonic and spastic movement disorders. However, a single approach does not suit all patients, even within one disease indication. The degree of flexibility in treatment protocols is determined by individual product licenses, which often lag behind real-world clinical experience. A number of patient/practitioner surveys conducted recently have highlighted a desire for greater flexibility than that currently approved, both in BoNT doses and in the intervals between consecutive doses...
January 30, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29397587/-occupational-diseases-of-musicians-the-price-of-perfection
#20
Montserrat García Gómez
BACKGROUND: Musicians suffer from a wide range of health problems related to their profession. The aim of this paper was to assess whether work-related musician diseases are included into the Official Spanish List of Occupational Diseases and, if so, to describe and quantify those recognized in recent years. METHODS: The Official Spanish List of Occupational Diseases was searched to identify occupational diseases affecting musicians. We then conducted an incidence study of those occupational diseases recognized under code 29...
January 2018: Archivos de Prevención de Riesgos Laborales
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