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paroxysmal movement disorders

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https://www.readbyqxmd.com/read/29600549/phenotypes-genotypes-and-the-management-of-paroxysmal-movement-disorders
#1
REVIEW
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner
As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis...
March 30, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29530725/movement-disorders-in-multiple-sclerosis-and-neuromyelitis-optica-a-clinical-marker-of-neurological-disability
#2
Carolina Candeias da Silva, Denis Bernardi Bichuetti, Sonia Maria Cesar de Azevedo Silva, Henrique Ballalai Ferraz, Enedina Maria Lobato de Oliveira, Vanderci Borges
INTRODUCTION: Movement disorders are not rare in demyelinating diseases but there are few studies comparing their frequency between multiple sclerosis and neuromyelitis optica spectrum disorder. Our aim was to determine the frequency and the related features of movement disorders in a cohort of patients with multiple sclerosis and neuromyelitis optica spectrum disorder. METHODS: It is a cross-sectional study of patients with multiple sclerosis and neuromyelitis optica spectrum disorder...
March 3, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29530121/-glucose-transporter-1-deficiency-syndrome-features-of-movement-disorders-diagnosis-and-treatment
#3
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29520252/management-of-refractory-orofacial-dyskinesia-caused-by-anti-n-methyl-d-aspartate-receptor-encephalitis-using-botulinum-toxin
#4
Feixia Zheng, Xiuyun Ye, Xulai Shi, Neha Devi Poonit, Zhongdong Lin
The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti- N -methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29519947/acute-hyperkinetic-movement-disorders-in-italian-paediatric-emergency-departments
#5
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Giacomo Garone, Claudia Bondone, Antonella Palmieri, Lucia Calistri, Agnese Suppiej, Raffaele Falsaperla, Alessandro Capuano, Valentina Ferro, Antonio Francesco Urbino, Ramona Tallone, Alessandra Montemaggi, Stefano Sartori, Piero Pavone, Margherita Mancardi, Federico Melani, Lucrezia Ilvento, Maria Federica Pelizza, Antonino Reale
INTRODUCTION: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED). METHODS: We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013). RESULTS: The most common type of AHMD was tics (44...
March 8, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29396171/atp1a3-spectrum-disorders-a-video-documented-history-of-7-genetically-confirmed-early-onset-cases
#6
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3 -subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29366536/transient-benign-paroxysmal-movement-disorders-in-infancy
#7
REVIEW
Emilio Fernández-Alvarez
This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized by their favourable outcome. We pay special attention to the recognition and management of these abnormal motor conditions strongly suggestive of epileptic disorders. They include: neonatal jitteriness; benign neonatal sleep myoclonus; benign paroxysmal tonic upgaze; paroxysmal tonic downgaze, benign paroxysmal torticollis and benign polymorphous movement disorder of infancy...
January 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29356177/proline-rich-transmembrane-protein-2-negative-paroxysmal-kinesigenic-dyskinesia-clinical-and-genetic-analyses-of-163-patients
#8
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang, Xiao-Meng Yin, Mei Zhang, Wei-Guo Tang, Xiao-Rong Liu, Bei-Sha Tang, Sheng-Di Chen, Li Cao
BACKGROUND: Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline-rich transmembrane protein 2 mutations. OBJECTIVE: The objective of this study was to investigate potential causative genes and clinical characteristics in proline-rich transmembrane protein 2-negative patients with paroxysmal kinesigenic dyskinesia. METHODS: We analyzed clinical manifestations and performed exome sequencing in a cohort of 163 proline-rich transmembrane protein 2-negative probands, followed by filtering data with a paroxysmal movement disorders gene panel...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29282340/-from-involuntary-movements-to-movement-disorders
#9
Toshio Fukutake
Apart from the term 'involuntary movements', the term 'movement disorders' encompasses not only classical hyperkinesias but also hypokinesias including catalepsy or apraxia. It enables us to understand abnormal movements by their phenomena instead of by their localization. To advance the grasping of movement disorders, we discuss the clinical and pathophysiological features of abnormal movements in catatonia/catalepsy, anti-NMDAR encephalitis, paroxysmal dyskinesias, stiff person/leg syndrome, corticobasal degeneration/syndrome, and hysteria...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29167286/a-novel-prrt2-pathogenic-variant-in-a-family-with-paroxysmal-kinesigenic-dyskinesia-and-benign-familial-infantile-seizures
#10
Jacqueline G Lu, Juliet Bishop, Sarah Cheyette, Igor B Zhulin, Su Guo, Nara Sobreira, Steven E Brenner
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in PRRT2 (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly understood. Here, we report the discovery of a novel PRRT2 pathogenic variant inherited in an autosomal dominant pattern in a family with PKD and benign familial infantile seizures (BFIS)...
February 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29095389/paroxysmal-tonic-upgaze-in-children-three-case-reports-and-a-review-of-the-literature
#11
Ayse Kartal
BACKGROUND: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events are mostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist...
October 31, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#12
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
January 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28961260/biochemical-phenotyping-unravels-novel-metabolic-abnormalities-and-potential-biomarkers-associated-with-treatment-of-glut1-deficiency-with-ketogenic-diet
#13
Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, movement disorders, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting...
2017: PloS One
https://www.readbyqxmd.com/read/28860775/a-case-of-paroxysmal-kinesigenic-dyskinesia-which-exhibited-the-phenotype-of-anxiety-disorder
#14
Yasuto Kunii, Nozomu Matsuda, Hirooki Yabe
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare heritable neurologic disorder characterized by attacks of involuntary movement induced by sudden voluntary movements. No previous reports have described cases showing comorbidity with psychiatric disease or symptoms. In this case, we showed a patient with PKD who exhibited several manifestations of anxiety disorder. CASE: A 35-year-old Japanese man with PKD had been maintained on carbamazepine since he was 16 years of age without any attacks...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28842725/-diagnosis-of-non-epileptic-paroxysmal-disorders-and-epileptic-seizures
#15
REVIEW
S Noachtar, B Güldiken
Non-epileptic paroxysmal disorders may clinically manifest in a similar way to epileptic seizures and have to be considered in the differential diagnosis of epilepsy. Syncope, non-epileptic psychogenic seizures, paroxysmal movement disorders, migraine, transient ischemic attacks and parasomnia constitute the major differential diagnoses. A meticulous history and a third party description are useful for the differential diagnosis. Neurological, psychiatric and cardiological examinations are required for the correct differential diagnosis...
October 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28836553/depression-anxiety-and-quality-of-life-in-paroxysmal-kinesigenic-dyskinesia-patients
#16
Wo-Tu Tian, Xiao-Jun Huang, Xiao-Li Liu, Jun-Yi Shen, Gui-Ling Liang, Chen-Xi Zhu, Wei-Guo Tang, Sheng-Di Chen, Yan-Yan Song, Li Cao
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by recurrent dystonic or choreoathetoid attacks triggered by sudden voluntary movements. Under the condition of psychological burden, some patients' attacks may get worsened with longer duration and higher frequency. This study aimed to assess nonmotor symptoms and quality of life of patients with PKD in a large population. METHODS: We performed a cross-sectional survey in 165 primary PKD patients from August 2008 to October 2016 in Rui Jin Hospital, using Symptom Check List-90-Revised (SCL-90-R), World Health Organization Quality of Life-100 (WHOQoL-100), Self-Rating Depression Scale, and Self-Rating Anxiety Scale...
September 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28767521/disabling-central-paroxysmal-positioning-upbeat-nystagmus-and-vertigo-associated-with-the-presence-of-anti-glutamic-acid-decarboxylase-antibodies
#17
Ana I Martins, João N Carvalho, Ana M Amorim, Argemiro Geraldo, Eric Eggenberger, João Lemos
An immune attack by anti-glutamic acid decarboxylase (GAD) antibodies is believed to cause a deficiency in gamma-aminobutyric acid-mediated neurotransmission in the cerebellum. This, in turn, leads to several eye movement disorders, including spontaneous downbeat (DBN) and periodic alternating nystagmus. We describe a 68-year-old diabetic woman with disabling paroxysmal positioning upbeat nystagmus (UBN) exclusively in the supine position, associated with asymptomatic spontaneous DBN, alternating skew deviation and hyperactive vestibulo-ocular reflex responses on head impulse testing, in whom high titers of anti-GAD antibodies were detected...
August 1, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28747835/non-epileptic-paroxysmal-events-in-childhood
#18
Burak Tatlı, Serhat Güler
Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. The duration, place, timing of the attacks, and state of conciousness may confuse pediatricians about the diagnosis of epilepsy and non epileptic paroxysmal events. The key point in the diagnosis is taking an accurate and detailed history. Wrong diagnosis can give rise to anxiety of both the family and the child, interruptions in the child's education, limitations in career planning, and irreversible damages in the long term...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28706744/management-of-oromandibular-dystonia-a-case-report-and-literature-update
#19
Suma Gn, Adrita Nag
Oromandibular dystonia (OMD) is a movement disorder characterized by involuntary, paroxysmal, and patterned muscle contractions of varying severity resulting in sustained spasms of masticatory muscles, affecting the jaws, tongue, face, and pharynx. It is most commonly idiopathic or medication-induced, but peripheral trauma sometimes precedes the condition. We present a case report of a 26-year-old female patient who suffered repetitive bouts of hemifacial muscle contractions for 2 years on closing the mouth which interfered in patient's well-being and quality of life by hampering her ability to eat and talk and to the extent of inability to breath due to contractions of her neck muscles...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28703446/paroxysmal-dyskinesia-in-border-terriers-clinical-epidemiological-and-genetic-investigations
#20
Q E M Stassen, L L E Koskinen, F G van Steenbeek, E H Seppälä, T S Jokinen, P G M Prins, H G J Bok, M M J M Zandvliet, M Vos-Loohuis, P A J Leegwater, H Lohi
BACKGROUND: In the last decade, a disorder characterized by episodes of involuntary movements and dystonia has been recognized in Border Terriers. OBJECTIVES: To define clinical features of paroxysmal dyskinesia (PD) in a large number of Border Terriers and to study the genetics of the disease. ANIMALS: 110 affected and 128 unaffected client-owned Border Terriers. METHODS: A questionnaire regarding clinical characteristics of PD was designed at Utrecht University and the University of Helsinki...
July 2017: Journal of Veterinary Internal Medicine
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