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https://www.readbyqxmd.com/read/29219190/phenomenology-genetics-and-cns-network-abnormalities-in-laryngeal-dystonia-a-30-year-experience
#1
Andrew Blitzer, Mitchell F Brin, Kristina Simonyan, Laurie J Ozelius, Steven J Frucht
OBJECTIVE: Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment. METHODS: Our studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations...
December 8, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29214085/sox5-null-heterozygous-mutation-in-a-family-with-adult-onset-hyperkinesia-and-behavioral-abnormalities
#2
Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann
SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29204316/acute-dystonic-reaction-following-general-anesthetic-agent-use
#3
Jiraporn Jitprapaikulsan, Prachaya Srivanitchapoom
Background: A 36-year-old Thai female who underwent a thymectomy under general anesthesia developed acute abnormal movements in the craniofacial region immediately after awakening with preserved consciousness. Phenomenology: Intermittent abnormal movements included oculogyric crisis; tongue protrusion; blepharospasm; and oro-mandibular dystonia consisting of risus sardonicus, jaw opening, and right torticollis. Educational value: An acute dystonic reaction can be a complication of either single or combined general anesthetic agents...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29204313/dystonic-head-tremor-and-the-coexistence-of-headache
#4
Marit A Hulzenga, Debbie Beumer, Peter J Koehler
Background: Head tremor may be observed in the presence of cervical dystonia and sometimes coexists with headache. We wished to investigate the presence of headache in dystonic head tremor. Methods: We studied the files of 19 patients from our outpatient clinic (1997-2017) with dystonic head tremor and assessed the co-occurrence of headache. We also performed a literature search of the topic. Results: Cervicogenic headache was present in nearly 37% of patients with dystonic head tremor...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29193359/consensus-statement-on-the-classification-of-tremors-from-the-task-force-on-tremor-of-the-international-parkinson-and-movement-disorder-society
#5
Kailash P Bhatia, Peter Bain, Nin Bajaj, Rodger J Elble, Mark Hallett, Elan D Louis, Jan Raethjen, Maria Stamelou, Claudia M Testa, Guenther Deuschl
BACKGROUND: Consensus criteria for classifying tremor disorders were published by the International Parkinson and Movement Disorder Society in 1998. Subsequent advances with regard to essential tremor, tremor associated with dystonia, and other monosymptomatic and indeterminate tremors make a significant revision necessary. OBJECTIVES: Convene an international panel of experienced investigators to review the definition and classification of tremor. METHODS: Computerized MEDLINE searches in January 2013 and 2015 were conducted using a combination of text words and MeSH terms: "tremor", "tremor disorders", "essential tremor", "dystonic tremor", and "classification" limited to human studies...
November 30, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29179609/staged-pallidotomy-mri-and-clinical-follow-up-in-status-dystonicus
#6
Angelo Franzini, Vincenzo Levi, Andrea Franzini, Ivano Dones, Giuseppe Messina
PURPOSE: We report on a patient affected by Status Distonicus who was treated with Deep Brain Stimulation electrodes implanted in the Globus Pallidus internus (Gpi) and used for serial radiofrequency lesions. MATERIALS AND METHODS: The evolution of radiofrequency lesions was monitored by post-operative and late Magnetic Resonance Imaging (MRI). After the first lesion the patient did improve, though not in a significant fashion. Therefore, three further radiofrequency lesions were delivered 2, 4 and 6 days respectively after surgery with subsequent improvement of dystonic movements...
November 28, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29171405/seizure-semiology-of-anti-lgi1-antibody-encephalitis
#7
Nicholas J Beimer, Linda M Selwa
Limbic encephalitis associated with anti-LGI1 antibody (LGI1 encephalitis) presents with a variety of features, the most prominent of which include seizures and progressive disturbance of memory and behaviour. Although varied in semiology, recognition of the pattern of seizures in LGI1 encephalitis is important, as early diagnosis and definitive treatment may prevent subsequent development of cognitive impairment. We present a patient with LGI1 encephalitis and "faciobrachial dystonic seizures-plus", which began as classic faciobrachial dystonic seizures and progressed to focal seizures with impaired awareness, dacrystic/gelastic-like outbursts, ictal speech, manual automatisms, and autonomic signs (tachycardia)...
November 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29163329/dystonic-dysarthria-in-wilson-disease-efficacy-of-zolpidem
#8
Aurélia Poujois, Michaela Pernon, Jean-Marc Trocello, France Woimant
Wilson disease (WD) is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthria is a frequent symptom, with dystonic, spastic, or parkinsonian components and is usually resistant to medical or voice rehabilitation therapies. Here, we report the case of a patient with WD diagnosed at the age of 12, who presented a severe and constant dysarthria from dystonic origin which was unresponsive to benzodiazepines and anticholinergic drugs...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29158924/methylmalonic-acidemia-with-novel-mut-gene-mutations
#9
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29151795/the-influence-of-occlusal-stabilization-appliances-on-cervical-dystonia-symptoms
#10
Camelia Navrotchi, Mîndra Eugenia Badea
Objectives: The aim of this study was to assess the therapeutic efficiency of the occlusal stabilization appliance (OSA) in patients with cervical dystonia (CD). Methods: The study included 11 patients aged between 29 and 80 years, 7 women and 4 men, diagnosed with primary CD. The patients underwent an extra- and intra-oral clinical examination, followed by para-clinical examinations, necessary for the specifications of the OSA. The following data were recorded: demographic parameters, CD duration, management of the disease, dental impression, recording of the centric relationship, recording of the position of the upper jaw with the facial bow...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29145168/frontal-infraslow-activity-marks-the-motor-spasms-of-anti-lgi1-encephalitis
#11
Richard Wennberg, Claude Steriade, Robert Chen, Danielle Andrade
OBJECTIVE: The clinical and electrographic features of seizures in anti-LGI1 encephalitis are distinct from those seen in other autoimmune encephalitides or non-encephalitic epilepsies. One electroclinical phenomenon specific to the condition consists of lateralized motor spasms, known as faciobrachial dystonic seizures (FBDS). An electrodecremental pattern overriding a "DC shift" has been described as the EEG correlate of these spasms. We sought to further characterize this pre-spasm infraslow activity (ISA)...
October 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29144565/rethinking-status-dystonicus
#12
REVIEW
Marta Ruiz-Lopez, Alfonso Fasano
Status dystonicus is a movement disorder emergency that has been a source of controversy in terms of terminology, phenomenology, and management since it was first described in 1982. Here we argue that the current use of the term status dystonicus falls well short of the precision needed for either clinical or academic use. We performed a critical review on this topic, describing possible pathophysiological mechanisms and areas of uncertainties. This review also addresses the problems derived by the extreme clinical heterogeneity of this condition, as the lack of an objective criterion useful for the definition, or the fact that status dystonicus may present not only in the context of a known dystonic syndrome...
November 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29143206/characteristics-of-two-distinct-clinical-phenotypes-of-functional-psychogenic-dystonia-follow-up-study
#13
Igor N Petrović, Aleksandra Tomić, Marija Mitković Vončina, Danilo Pešić, Vladimir S Kostić
BACKGROUND: The fixed dystonia phenotype was originally established as a prototype of functional dystonia. Nevertheless, in recent reports different functional dystonia phenotypes have been recognized with dystonic movement comprising phasic instead of tonic contraction. OBJECTIVES: To examine clinical characteristic in all patients with dystonia who fulfilled the criteria for functional movement disorders irrespective of phenotype in an attempt to determine parameters of clinical presentations that might impact the disease progression pattern and outcome...
November 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29130551/a-localized-pallidal-physiomarker-in-cervical-dystonia
#14
Wolf-Julian Neumann, Andreas Horn, Siobhan Ewert, Julius Huebl, Christof Brücke, Colleen Slentz, Gerd-Helge Schneider, Andrea A Kühn
OBJECTIVE: Deep brain stimulation (DBS) allows for direct recordings of neuronal activity from the human basal ganglia. In Parkinson's disease, a disease-specific physiomarker was identified that is now used to investigate adaptive closed-loop stimulation in first studies. In dystonia such a physiomarker is missing. METHODS: Pallidal oscillations were recorded from 153 contact pairs in 27 patients. We investigated whether power amplitudes in theta and beta bands correlate with dystonic symptom severity across patients...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29120894/advances-in-pharmacotherapies-for-movement-disorders-in-children-current-limitations-and-future-progress
#15
Jean-Pierre Lin
PURPOSE OF REVIEW: In childhood, movement disorders are generated by a very large number of disorders of the nervous system, and the very different developmental ages at which these occur make studies of pharmacotherapy efficacy extremely difficult. In most clinical practices, medication used in management is by trial and error, and limited by lack of efficacy and/or adverse drug reactions leading to drug intolerance. Nevertheless, symptom reduction using polypharmacy must be balanced against any accompanying comorbidities such as poor attention and concentration, constipation, ileus, urinary retention, blurred vision sedation and respiratory depression...
December 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29120195/personality-disorder-traits-perceptions-of-likability-impairment-and-ability-to-change-as-correlates-and-moderators-of-desired-level
#16
Joshua D Miller, Chelsea E Sleep, Joanna Lamkin, Colin Vize, W Keith Campbell, Donald R Lynam
Historical conceptualizations have framed personality disorders (PDs) as unchanging and ego-syntonic. However, recent evidence suggests that individuals with PD traits may have some insight into their personality and consider those traits to be somewhat ego-dystonic. To replicate and extend previous findings, participants (N = 328) self-reported their PD trait levels, likability of those traits, impairment, capability for change, and desired trait levels. The results demonstrated that individuals with PD traits tolerate but still dislike those traits, believe that they cause them problems, and are interested in reducing them...
November 9, 2017: Personality Disorders
https://www.readbyqxmd.com/read/29114239/botulinumtoxin-improves-both-generic-and-disease-specific-quality-of-life-in-cervical-dystonia
#17
Daniel Weiss, Leonhard Hieber, Justine Sturm, Axel Börtlein, Ingo Mayr, Matthias Appy, Benedicta Kühnler, Joachim Buchthal, Christian Dippon, Guy Arnold, Tobias Wächter
Botulinumtoxin injection (BoNT) into affected muscles is effective to improve motor symptoms of cervical dystonia (CD) by reducing muscle contraction and involuntary dystonic movement and posturing. However, the understanding of the effect on health-related quality of life (HR-QoL) and patient referral under HR-QoL aspects is incomplete. In this open-label clinical prospective observational study, we characterized the outcomes in CD (n = 159) from botulinumtoxin on both generic HR-QoL (EuroQol; EQ-5D-5L) and disease-specific HR-QoL [craniocervical dystonia questionnaire (CDQ-24)]...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29105865/oral-medication-prescription-practices-of-tertiary-based-specialists-for-dystonia-in-children-with-cerebral-palsy
#18
Adrienne Harvey, Dinah Reddihough, Adam Scheinberg, Katrina Williams
AIM: To examine current clinical practice for prescribing medications for children with dystonic cerebral palsy (CP) by medical doctors working at a tertiary care centre. METHODS: Rehabilitation and developmental paediatric specialists completed: (i) a custom-designed online cross-sectional survey capturing their usual prescribing patterns; and (ii) one-page questionnaires detailing medication prescription for each child with CP who they started on a new medication for dystonia over a 12-month period...
November 6, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29103325/myofibrillogenesis-regulator-1-mr-1-a-potential-therapeutic-target-for-cancer-and-pnkd
#19
Junxia Wang, Wuli Zhao, Hong Liu, Hongwei He, Rongguang Shao
Human myofibrillogenesis regulator 1 (MR-1) is a functional gene also known as paroxysmal nonkinesigenic dyskinesia (PNKD). It is localised on human chromosome 2q35 and three different isomers, MR-1L, MR-1M and MR-1S, are formed by alternative splicing. MR-1S promotes cardiac hypertrophy and is closely related to cancer. MR-1S is overexpressed in haematologic and solid malignancies, such as hepatoma, breast cancer and chronic myelogenous leukaemia. MR-1S causes disordered cell differentiation, initiates malignant transformation and accelerates metastasis...
November 15, 2017: Journal of Drug Targeting
https://www.readbyqxmd.com/read/29103007/anti-lgi1-encephalitis-causing-faciobrachial-dystonic-seizures
#20
Stamatios Zouras, Jeffrey W Stephens, Srinivasa Rao Abburu, Chika Emelle
Anti-leucine-richglioma inactivated protein 1 (LGI1) encephalitis has an autoimmune origin and can be reversed with immunotherapy. It is obvious that identifying and treating this condition early is of paramount importance. We present the case of a 69-year-old man who was admitted to hospital with faciobrachial dystonic seizures and was found to have antibodies to LGI1. His symptoms started approximately 3 months prior admission to the hospital. There had also been some subtle cognitive impairment. He was treated with two courses of intravenous immunoglobulin and commenced on prednisolone 50 mg daily and clonazepam 500 µg at night...
November 4, 2017: BMJ Case Reports
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