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https://www.readbyqxmd.com/read/27919412/anti-nmda-a-nmdar-receptor-encephalitis-related-to-acute-consumption-of-metamphetamine-relevance-of-differential-diagnosis
#1
O Iriondo, J Zaldibar-Gerrikagoitia, T Rodríguez, J M García, L Aguilera
A 19-year-old male came to the Emergency Room of our hospital due to an episode of dystonic movements and disorientation 4 days after consuming methamphetamine, which evolved to a catatonic frank syndrome and eventually to status epilepticus. Definitive diagnosis was anti-NMDA receptor encephalitis, an acute inflammation of the limbic area of autoimmune origin in which early diagnosis and treatment are key elements for the final outcome. In this case, initial normal tests and previous methamphetamine poisoning delayed diagnosis, because inhaled-methamphetamine poisoning causes similar clinical symptoms to anti-NMDA receptor encephalitis...
December 2, 2016: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/27913194/genetic-screening-of-thap1-in-primary-dystonia-patients-of-india
#2
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...
November 29, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27911020/changes-in-resting-state-connectivity-in-musicians-with-embouchure-dystonia
#3
Bernhard Haslinger, Jonas Noé, Eckart Altenmüller, Valentin Riedl, Claus Zimmer, Tobias Mantel, Christian Dresel
OBJECTIVE: Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. METHODS: We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27901261/imaging-findings-in-faciobrachial-dystonic-seizures-associated-with-lgi-1-antibodies
#4
Ronnyson Susano Grativvol, Mateus Mistieri Simabukuro, Raphael Ribeiro Spera, Wagner Cid Palmeira Cavalcante, Hugo Henrique Soares Araújo, Daniel Sakuno, Leandro Tavares Lucato, Lécio Figueira Pinto, Luiz Henrique Martins Castro, Ricardo Nitrini
No abstract text is available yet for this article.
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27898361/movement-symptoms-in-european-moyamoya-angiopathy-first-systematic-questionnaire-study
#5
Markus Kraemer, Leonidas Trakolis, Jens Platzen, Jan Claudius Schwitalla, Anna Bersano, Philipp Albrecht, Marc Schlamann, Peter Berlit
OBJECTIVE: Movement disorders are a rare manifestation of Moyamoya angiopathy (MMA). Data on prevalence and clinical presentation are warranted. Possible involuntary movements include focal motor seizures, tremor, limb-shaking transient ischemic attacks, choreiform and spastic or dystonic movement disorders. PATIENTS AND METHODS: We developed a questionnaire to systematically assess movement disorders in MMA. Patients' history of involuntary movements and their clinical presentation were assessed systematically by interview...
November 23, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27895619/a-functional-magnetic-resonance-imaging-study-of-head-movements-in-cervical-dystonia
#6
Cecília N Prudente, Randall Stilla, Shivangi Singh, Cathrin Buetefisch, Marian Evatt, Stewart A Factor, Alan Freeman, Xiaoping Philip Hu, Ellen J Hess, K Sathian, H A Jinnah
Cervical dystonia (CD) is a neurological disorder characterized by abnormal movements and postures of the head. The brain regions responsible for these abnormal movements are not well understood, because most imaging techniques for assessing regional brain activity cannot be used when the head is moving. Recently, we mapped brain activation in healthy individuals using functional magnetic resonance imaging during isometric head rotation, when muscle contractions occur without actual head movements. In the current study, we used the same methods to explore the neural substrates for head movements in subjects with CD who had predominantly rotational abnormalities (torticollis)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27894678/a-simple-orthosis-solves-a-problem-in-a-patient-with-a-dystonic-finger-after-stroke
#7
Stefano Vercelli, Giorgio Ferriero, Elisabetta Bravini, Wafa Al Yazeedi, Ludovit Salgovic, Marco Caligari, Francesco Sartorio
These authors use a custom-fabricated orthotic device to improve hand motion and function for a client with hand dystonia after stroke. Clinical observation and reasoning resulted in an effective solution to control the dystonia that was acceptable to the client. - Kristin Valdes, OTD, OT, CHT, Practice Forum Editor.
November 25, 2016: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
https://www.readbyqxmd.com/read/27893017/evaluation-of-cognitive-deficits-and-structural-hippocampal-damage-in-encephalitis-with-leucine-rich-glioma-inactivated-1-antibodies
#8
Carsten Finke, Harald Prüss, Josephine Heine, Sigrid Reuter, Ute A Kopp, Florian Wegner, Florian Then Bergh, Sebastian Koch, Olav Jansen, Thomas Münte, Günther Deuschl, Klemens Ruprecht, Winfried Stöcker, Klaus-Peter Wandinger, Friedemann Paul, Thorsten Bartsch
Importance: Limbic encephalitis with leucine-rich, glioma-inactivated 1 (LGI1) antibodies is one of the most frequent variants of autoimmune encephalitis with antibodies targeting neuronal surface antigens. However, the neuroimaging pattern and long-term cognitive outcome are not well understood. Objective: To study cognitive outcome and structural magnetic resonance imaging (MRI) alterations in patients with anti-LGI1 encephalitis. Design, Setting, and Participants: A cross-sectional study was conducted at the Departments of Neurology at Charité-Universitätsmedizin Berlin and University Hospital Schleswig-Holstein, Kiel, Germany...
November 21, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27891079/contribution-of-tms-and-rtms-in-the-understanding-of-the-pathophysiology-and-in-the-treatment-of-dystonia
#9
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/27881096/a-step-toward-essential-tremor-gene-discovery-identification-of-extreme-phenotype-and-screening-of-htra2-and-ano3
#10
Mathilde Renaud, Christophe Marcel, Gabrielle Rudolf, Mickaël Schaeffer, Ouhaïd Lagha-Boukbiza, Jean-Baptiste Chanson, Jamel Chelly, Mathieu Anheim, Christine Tranchant
BACKGROUND: Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C, p. R484 W and p. S685G mutations. METHODS: Between June 2011 and November 2013, all consecutive patients suspected with ET were prospectively included in a prospective, monocentric study...
November 23, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27871456/a-prognostic-factor-in-focal-hand-dystonia-typist-s-cramp-cases-and-literature-review
#11
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
#12
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/27853989/proposed-recommendations-for-diagnosing-and-managing-individuals-with-glutaric-aciduria-type-i-second-revision
#13
REVIEW
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R Greenberg, Inga Harting, Georg F Hoffmann, Daniela Karall, David M Koeller, Michael B Krawinkel, Jürgen G Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines)...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27847683/clinical-utility-of-seropositive-voltage-gated-potassium-channel-complex-antibody
#14
Adham Jammoul, Luay Shayya, Karin Mente, Jianbo Li, Alexander Rae-Grant, Yuebing Li
BACKGROUND: Antibodies against voltage-gated potassium channel (VGKC)-complex are implicated in the pathogenesis of acquired neuromyotonia, limbic encephalitis, faciobrachial dystonic seizure, and Morvan syndrome. Outside these entities, the clinical value of VGKC-complex antibodies remains unclear. METHODS: We conducted a single-center review of patients positive for VGKC-complex antibodies over an 8-year period. RESULTS: Among 114 patients positive for VGKC-complex antibody, 11 (9...
October 2016: Neurology. Clinical Practice
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...
November 9, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27835968/a-case-of-rapid-onset-dystonia-parkinsonism-accompanied-by-pyramidal-tract-impairment
#16
Yanqiu Liu, Yan Lu, Xinqing Zhang, Shuping Xie, Tingting Wang, Tianwen Wu, Chaoyan Wang
BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign. CASE PRESENTATION: We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism...
November 11, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27833231/acute-dystonia-after-single-dose-of-bupropion
#17
Forouzan Elyasi, Elham Mahtiyan
Bupropion is an antidepressant that is effective in the treatment of major depressive disorders, smoking cessation, and sexual side effects of selective serotonin reuptake inhibitors. Acute dystonia is characterized by prolonged muscle contraction often represented by spasms of the head and neck muscles as well as occasional jaw clenching and temporomandibular joint syndrome. Although it is believed that dystonia is the result of an abnormality of the basal ganglia, its pathophysiology is still unclear. A few cases of dystonia resulting from bupropion have been reported in prior research papers...
September 2016: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/27800210/classification-and-characteristics-of-pain-associated-with-parkinson-s-disease
#18
REVIEW
Marcelo Rezende Young Blood, Marcelo Machado Ferro, Renato Puppi Munhoz, Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo
Neuropsychiatric symptoms and pain are among the most common nonmotor symptoms of Parkinson's disease (PD). The correlation between pain and PD has been recognized since its classic descriptions. Pain occurs in about 60% of PD patients, two to three times more frequent in this population than in age matched healthy individuals. It is an early and potentially disabling symptom that can precede motor symptoms by several years. The lower back and lower extremities are the most commonly affected areas. The most used classification for pain in PD defines musculoskeletal, dystonic, central, or neuropathic/radicular forms...
2016: Parkinson's Disease
https://www.readbyqxmd.com/read/27798370/scaled-vibratory-feedback-can-bias-muscle-use-in-children-with-dystonia-during-a-redundant-1-dimensional-myocontrol-task
#19
Shanie A Liyanagamage, Matteo Bertucco, Nasir H Bhanpuri, Terence D Sanger
Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (ie, vibration that was directly or inversely proportional to muscle activity) would increase use of the vibrated muscle because of task-relevant sensory information, whereas nonscaled vibration would not change muscle use. The study was conducted on 11 subjects with dystonia and 14 controls...
October 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27769743/sensorimotor-tests-unmask-a-phenotype-in-the-dyt1-knock-in-mouse-model-of-dystonia
#20
Franziska Richter, Julia Gerstenberger, Anne Bauer, Chun-Chi Liang, Angelika Richter
Hereditary generalized dystonia is often caused by a GAG deletion in TOR1A (DYT1) that encodes for the protein torsinA. Although mutation carriers show alterations in neuronal connectivity and sensorimotor deficits, only 30% develop dystonia. Uncovering the factors triggering the dystonic symptoms and underlying pathophysiology would greatly benefit the development of more effective therapies. In DYT1 knock-in (KI) mice, the expression of torsinA mutant alters the connectivity of neurons and the function of striatal cholinergic interneurons...
October 18, 2016: Behavioural Brain Research
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