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https://www.readbyqxmd.com/read/29442146/-the-new-tremor-classification-of-the-international-parkinson-and-movement-disorder-society-update-on-frequent-tremors
#1
REVIEW
F Gövert, J Becktepe, G Deuschl
Tremor is one of the most frequent movement disorders. The recently published new classification of the Movement Disorder Society separates the clinical description of tremor syndromes as so-called axis 1 symptom constellations from the etiologies of tremor (axis 2). The same tremor syndromes can therefore be combined with different causes and vice versa. The terminology used in this classification is precisely defined and thereby also the necessary language for medical communication. Frequent tremor syndromes, such as enhanced physiologic tremor, dystonic and parkinsonian tremor as well as focal tremors and task and position-specific tremors are discussed with respect to the phenomenology, and current therapy...
February 13, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29431985/tremor-sorting-through-the-differential-diagnosis
#2
Paul Crawford, Ethan E Zimmerman
Tremor is an involuntary, rhythmic, oscillatory movement of a body part. It is the most common movement disorder encountered in primary care. The diagnosis of tremor is based on clinical information obtained from the history and physical examination. The most common tremors in patients presenting to primary care physicians are enhanced physiologic tremor, essential tremor, and parkinsonian tremor. All persons have low-amplitude, high-frequency physiologic tremors at rest and during action that are not reported as symptomatic, but can be enhanced by anxiety, medication use, caffeine intake, or fatigue...
February 1, 2018: American Family Physician
https://www.readbyqxmd.com/read/29407165/towards-flexible-and-tailored-botulinum-neurotoxin-dosing-regimens-for-focal-dystonia-and-spasticity-insights-from-recent-studies
#3
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/29406902/autoimmune-and-paraneoplastic-movement-disorders-an-update
#4
REVIEW
José Fidel Baizabal-Carvallo, Joseph Jankovic
Movement disorders (MDs) are common in patients with autoimmune disorders affecting the central and peripheral nervous system. They may be observed in autoimmune disorders triggered by an infectious agent, such as streptococcus in Sydenham's chorea, or in basal ganglia encephalitis with antibodies against the dopamine-D2 receptors. In these patients chorea or dystonia are usually the most prominent hyperkinetic MDs. MDs are also observed in patients with diffuse or limbic encephalitis with antibodies directed against neuronal cell-surface antigens...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29395663/atp1a3-related-epileptic-encephalopathy-responding-to-ketogenic-diet
#5
Tommaso Schirinzi, Federica Graziola, Raffaella Cusmai, Lucia Fusco, Francesco Nicita, Mirella Elia, Lorena Travaglini, Enrico Bertini, Paolo Curatolo, Federico Vigevano, Alessandro Capuano
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na+-K+ ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing and epilepsy are commonly associated to AHC. However, the spectrum of ATP1A3 related diseases is still expanding and new phenotypes have been reported...
January 26, 2018: Brain & Development
https://www.readbyqxmd.com/read/29394991/biallelic-variants-in-cnpy3-encoding-an-endoplasmic-reticulum-chaperone-cause-early-onset-epileptic-encephalopathy
#6
Hiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, Takuma Shibata, Hiroyuki Wakamoto, Hiroko Ikeda, Hiroki Kitaura, Kazushi Aoto, Mitsuko Nakashima, Tianying Wang, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Akiyoshi Kakita, Kensuke Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Early-onset epileptic encephalopathies, including West syndrome (WS), are a group of neurological disorders characterized by developmental impairments and intractable seizures from early infancy. We have now identified biallelic CNPY3 variants in three individuals with WS; these include compound-heterozygous missense and frameshift variants in a family with two affected siblings (individuals 1 and 2) and a homozygous splicing variant in a consanguineous family (individual 3). All three individuals showed hippocampal malrotation...
January 26, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29370806/the-progression-rate-of-spinocerebellar-ataxia-type-2-changes-with-stage-of-disease
#7
Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D Locks-Coelho, Amanda Senna P Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model...
January 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29368224/a-mild-case-of-molybdenum-cofactor-deficiency-defines-an-alternative-route-of-mocs1-protein-maturation
#8
Simon Julius Mayr, Jörn Oliver Sass, Julia Vry, Janbernd Kirschner, Irina Mader, Jan-Bernd Hövener, Jochen Reiss, José Angel Santamaria-Araujo, Günter Schwarz, Sarah Catharina Grünert
Molybdenum cofactor deficiency is an autosomal recessive inborn error of metabolism, which results from mutations in genes involved in Moco biosynthesis. Moco serves as a cofactor of several enzymes, including sulfite oxidase. MoCD is clinically characterized by intractable seizures and severe, rapidly progressing neurodegeneration leading to death in early childhood in the majority of known cases. Here we report a patient with an unusual late disease onset and mild phenotype, characterized by a lack of seizures, normal early development, a decline triggered by febrile illness and a subsequent dystonic movement disorder...
January 24, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29340715/postural-control-and-the-relation-with-cervical-sensorimotor-control-in-patients-with-idiopathic-adult-onset-cervical-dystonia
#9
J De Pauw, R Mercelis, A Hallemans, G Van Gils, S Truijen, P Cras, W De Hertogh
Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions leading to an abnormal head posture or movements of the neck. Dysfunctions in somatosensory integration are present and previous data showed enlarged postural sway in stance. Postural control during quiet sitting and the correlation with cervical sensorimotor control were investigated. Postural control during quiet sitting was measured via body sway parameters in 23 patients with CD, regularly receiving botulinum toxin treatment and compared with 36 healthy controls...
January 16, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29334040/botulinum-toxin-type-a-for-pain-in-advanced-parkinson-s-disease
#10
Veronica Bruno, Maria Eliza Freitas, Deborah Mancini, Jane P Lui, Janis Miyasaki, Susan H Fox
Background and Objective Pain is a frequent symptom in Parkinson's disease (PD), and the therapeutic alternatives are scarce. The goal of this trial was to measure the effects of botulinum toxin type A (BTXA) in the treatment of limb pain in advanced PD. Methods A randomized double-blind crossover versus placebo study of BTXA for limb pain in advanced Parkinson's disease was conducted. Subjects received individualized BTXA/placebo dosing per pain distribution in limbs. The primary outcome was a measure of change in global pain on a numeric rating scale (NRS) at 4 and 12 weeks postinjection and on a visual analogue scale 12 weeks after treatment...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29326495/acute-dystonic-reaction-leading-to-lingual-hematoma-mimicking-angioedema
#11
Özgür Sezer, Ali Attila Aydin, Sedat Bilge, Fatih Arslan, Hasan Arslan
Lingual hematoma is a severe situation, which is rare and endangers the airway. It can develop due to trauma, vascular abnormalities, and coagulopathy. Due to its sudden development, it can be clinically confused with angioedema. In patients who applied to the doctor with complaints of a swollen tongue, lingual hematoma can be confused with angioedema, in particular, at the beginning if the symptoms occurred after drug use. It should especially be considered that dystonia in the jaw can present as drug-induced hyperkinetic movement disorder...
July 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29326295/randomised-controlled-trial-of-escitalopram-for-cervical-dystonia-with-dystonic-jerks-tremor
#12
Evelien Zoons, Jan Booij, Catherine C S Delnooz, Joke M Dijk, Yasmine E M Dreissen, Johannes H T M Koelman, Sandra M A van der Salm, Matej Skorvanek, Marenka Smit, Majid Aramideh, Henriette Bienfait, Agnita J W Boon, Jeroen W M Brans, Edo Hoogerwaard, Ad Hovestadt, Daan J Kamphuis, Alexander G Munts, Johannes D Speelman, Marina A J Tijssen
OBJECTIVE: Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI) escitalopram. METHODS: In a randomised, double-blind, crossover trial, patients with CD received escitalopram and placebo for 6 weeks. Treatment with BoNT was continued, and scores on rating scales regarding dystonia, psychiatric symptoms and quality of life (QoL) were compared...
January 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29310866/initial-clinical-presentation-of-young-children-with-n-methyl-d-aspartate-receptor-encephalitis
#13
Marion Favier, Bastien Joubert, Géraldine Picard, Véronique Rogemond, Laure Thomas, Sylvain Rheims, Marion Bailhache, Frédéric Villega, Jean-Michel Pédespan, Giulia Berzero, Dimitri Psimaras, Jean-Christophe Antoine, Virginie Desestret, Jérôme Honnorat
Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients...
December 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29290055/variability-of-presynaptic-nigrostriatal-dopaminergic-function-and-clinical-heterogeneity-in-a-dopa-responsive-dystonia-family-with-gch-1-gene-mutation
#14
Juei-Jueng Lin, Chin-Song Lu, Chon-Haw Tsai
We studied the presynaptic nigrostriatal dopaminergic function using single photon emission computed tomography (SPECT) imaging of a 99mTc-TRODAT-1 (TRODAT) scan in a dopa-responsive dystonia (DRD) family with the guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation. Clinically, there was presentation of intrafamilial variability in the DRD family. The index patient was a 10-year-old girl with classic DRD and normal presynaptic nigrostriatal dopaminergic function. However, her grandmother, a 79-year-old woman, presented with slowly progressive Parkinson's disease (PD) without dystonic symptoms and excellent response to dopaminergic therapy for 21 years...
December 30, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29288993/chronic-deep-brain-stimulation-normalizes-scalp-eeg-activity-in-isolated-dystonia
#15
Svjetlana Miocinovic, Andrew Miller, Nicole C Swann, Jill L Ostrem, Philip A Starr
OBJECTIVE: To investigate cortical activity using scalp EEG in patients with isolated dystonia treated with chronic deep brain stimulation (DBS), on and off stimulation. METHODS: We analyzed 64-channel scalp EEG in 12 isolated dystonia patients treated with chronic DBS (7 generalized, 5 cervical/segmental; 7 globus pallidus (GP), 5 subthalamic nucleus (STN)), and 20 healthy age-matched controls. Recordings during rest and movement task, and clinical motor scores, were collected with DBS-on and during a 90-min DBS washout...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29286305/muscle-selection-for-focal-limb-dystonia
#16
REVIEW
Barbara Illowsky Karp, Katharine Alter
Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this article, we discuss approaches to selecting upper and lower extremity muscles for chemodenervation treatment of limb dystonia...
December 29, 2017: Toxins
https://www.readbyqxmd.com/read/29285614/the-effects-of-quinine-on-neurophysiological-properties-of-dopaminergic-neurons
#17
Li Zou, Yingchao Xue, Michael Jones, Thomas Heinbockel, Mingyao Ying, Xiping Zhan
Quinine is an antimalarial drug that is toxic to the auditory system by commonly inducing hearing loss and tinnitus, presumably due to its ototoxic effects on disruption of cochlear hair cells and blockade of ion channels of neurons in the auditory system. To a lesser extent, quinine also causes ataxia, tremor, and dystonic reactions. As dopaminergic neurons are implicated to play a role in all of these diseases, we tested the toxicity of quinine on induced dopaminergic (iDA) neurons derived from human pluripotent stem cells (iPSCs) and primary dopaminergic (DA) neurons of substantia nigra from mice brain slices...
December 29, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/29284817/a-case-of-early-onset-subacute-sclerosing-panencephalitis-presented-as-juvenile-myoclonic-epilepsy
#18
Ranjan Bhattacharyya, Bhaskar Mukherjee, Sumita Bhattacharyya
A 7.5 years girl presented with myoclonic jerks with prolonged duration coming progressively at shorter intervals for last six moinths. There was declining academic performances. The dystonic, dyskinetic movements and ataxia were there for last three months. The stages were progressing too rapidly. IgG antibody titre to measles virus was found to be positive with EEG changes which confirms diagnosis. SSPE at so early age with atypical presentation is unique in this indexed case.
November 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29246604/long-term-clinical-outcome-of-bilateral-pallidal-stimulation-for-intractable-craniocervical-dystonia-meige-syndrome-report-of-6-patients
#19
Michał Sobstyl, Grażyna Brzuszkiewicz-Kuźmicka, Artur Zaczyński, Tomasz Pasterski, Marta Aleksandrowicz, Mirosław Ząbek
BACKGROUND: The aim of the present study was to report the short-term as well long-term results of bilateral pallidal stimulation in 6 consecutive patients for severe debilitating craniocervical dystonia (Meige syndrome) using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). METHODS: We evaluated 6 consecutive patients with the diagnosis of intractable long-standing craniocervical dystonia. The formal objective assessment included the motor and disability BFMDRS scores...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29242978/animal-models-of-l-dopa-induced-dyskinesia-the-6-ohda-lesioned-rat-and-mouse
#20
REVIEW
Elisabetta Tronci, Veronica Francardo
Appearance of L-DOPA-induced dyskinesia (LID) represents a major limitation in the pharmacological therapy with the dopamine precursor L-DOPA. Indeed, the vast majority of parkinsonian patients develop dyskinesia within 9-10 years of L-DOPA oral administration. This makes the discovery of new therapeutic strategies an important need. In the last decades, several animal models of Parkinson's disease (PD) have been developed, to both study mechanisms underlying PD pathology and treatment-induced side effects (i...
December 14, 2017: Journal of Neural Transmission
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