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https://www.readbyqxmd.com/read/28515556/subacute-noninfective-inflammatory-encephalopathy-our-experience-and-diagnostic-problems
#1
Sadanandavalli Retnaswami Chandra, Lakshminarayanapuram Gopal Viswanathan, Dodmalur Malikarjuna Sindhu, Anupama Ramakanth Pai
INTRODUCTION: Immune dysregulation associated encephalopathies present with significant psychiatric manifestations and only a few soft neurological and general systemic features. They are generally resistant to treatment with psychiatric medications. Generalized orthostatic myoclonus and faciobrachial dystonic seizures are mistaken as Creutzfeldt-Jakob disease and subacute sclerosing panencephalitis. PATIENTS AND METHODS: Forty-two patients seen during 2010-2015 and diagnosed as noninfective encephalopathy were analyzed...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28512208/chorioretinitis-a-potential-clue-to-the-early-diagnosis-of-subacute-sclerosing-panencephalitis
#2
Vijayabala Jeevagan, Athula Dissanayake
We describe a 36-year-old man with subacute sclerosing panencephalitis (SSPE) presenting with chorioretinitis two years before onset of other neurological features. He had neither myoclonus nor the typical EEG features of SSPE. The diagnosis was confirmed in the appropriate clinical setting by detecting elevated measles antibody titres in cerebrospinal fluid and serum. Clinicians should consider SSPE among the differential diagnoses in chorioretinitis. This is particularly so if there is macular or perimacular involvement with concurrent involvement of the optic nerve in young patients, even without other characteristic neurological symptoms...
May 16, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#3
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28510035/ketone-bodies-as-a-possible-adjuvant-to-ketogenic-diet-in-pdhc-deficiency-but-not-in-glut1-deficiency
#4
F Habarou, N Bahi-Buisson, E Lebigot, C Pontoizeau, M T Abi-Warde, A Brassier, K H Le Quan Sang, C Broissand, S Vuillaumier-Barrot, A Roubertie, A Boutron, C Ottolenghi, P de Lonlay
OBJECTIVE: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral L,D-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS. METHODS: We designed a partial or total progressive substitution of KD with L,D-3-hydroxybutyrate in three GLUT1-DS and two PDHD patients...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28503362/a-case-of-myoclonus-dystonia-responding-to-low-frequency-pallidal-stimulation
#5
Harini Sarva, Joan Miravite, Matthew C Swan, Andres Deik, Deborah Raymond, William Lawrence Severt, Brian H Kopell
BACKGROUND: High-frequency pallidal stimulation has been shown to improve various types of dystonia, including myoclonus-dystonia. CASE REPORT: We report a case of epsilon sarcoglycan mutation-negative myoclonus-dystonia with response to low-frequency bilateral pallidal stimulation. DISCUSSION: Low-frequency pallidal stimulation provides an effective means of treating various dystonias, regardless of genetic status, as in our case, as it provides increased programming options with fewer adverse effects...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28497610/epilepsia-partialis-continua-after-an-anterior-circulation-ischaemic-stroke
#6
C Bentes, A C Franco, A R Peralta, P Viana, H Martins, C Morgado, C Casimiro, C Fonseca, R Geraldes, P Canhão, T Pinho E Melo, T Paiva, J M Ferro
BACKGROUND AND PURPOSE: Although cerebrovascular disorders are the main cause of epilepsia partialis continua (EPC) in adulthood, the frequency of EPC after stroke is unknown. The aim was to prospectively ascertain its frequency 1 year after an ischaemic stroke. METHODS: This was a prospective study of consecutive acute anterior circulation ischaemic stroke patients, previously independent, with an admission National Institutes of Health Stroke Scale score ≥4, an acute ischaemic lesion on imaging and no previous epileptic seizures...
May 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28487744/atorvastatin-diltiazem-combination-induced-rhabdomyolysis-leading-to-diagnosis-of-hypothyroidism
#7
N D B Ehelepola, S M B Y Sathkumara, H M P A G S Bandara, K L R Kalupahana
Statins and hypothyroidism, independently, can rarely cause rhabdomyolysis. The combination of them especially with concurrent intake of drugs such as diltiazem increases the risk of rhabdomyolysis. Hashimoto's encephalopathy is a rare condition associated with Hashimoto's thyroiditis and some patients with that can present with a stroke like picture. An elderly male who has been on atorvastatin for three years and on diltiazem for a week presented with sudden onset inability to walk and confusion. On examination muscle tenderness was noticed and creatine kinase levels indicated rhabdomyolysis which we attributed to atorvastatin...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28479124/opsoclonus-myoclonus-syndrome-a-new-era-of-improved-prognosis
#8
Armine Galstyan, Colin Wilbur, Kathryn Selby, Juliette Hukin
BACKGROUND: Opsoclonus-myoclonus syndrome is an autoimmune neurological disorder characterized by opsoclonus, myoclonus, ataxia, and behavioral changes. Although long-term outcomes have historically been poor, including motor and cognitive disabilities, the advent of new and more aggressive immunotherapy regimens may be improving prognosis in opsoclonus-myoclonus syndrome. METHODS: We retrospectively reviewed the records of all children diagnosed with opsoclonus-myoclonus syndrome at BC Children's Hospital from 2000 to 2010...
March 27, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28475556/high-concentrations-of-tranexamic-acid-inhibit-ionotropic-glutamate-receptors
#9
Irene Lecker, Dian-Shi Wang, Kirusanthy Kaneshwaran, C David Mazer, Beverley A Orser
BACKGROUND: The antifibrinolytic drug tranexamic acid is structurally similar to the amino acid glycine and may cause seizures and myoclonus by acting as a competitive antagonist of glycine receptors. Glycine is an obligatory co-agonist of the N-methyl-D-aspartate (NMDA) subtype of glutamate receptors. Thus, it is plausible that tranexamic acid inhibits NMDA receptors by acting as a competitive antagonist at the glycine binding site. The aim of this study was to determine whether tranexamic acid inhibits NMDA receptors, as well as α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid and kainate subtypes of ionotropic glutamate receptors...
May 5, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28474593/diaphragmatic-myoclonus
#10
Roshan Kaul, Amna Alfutaisi
No abstract text is available yet for this article.
April 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28460008/the-spectrum-and-burden-of-influenza-associated-neurological-disease-in-children-combined-encephalitis-and-influenza-sentinel-site-surveillance-from-australia-2013-2015
#11
P N Britton, C C Blyth, K Macartney, R C Dale, J Li-Kim-Moy, G Khandaker, N Crawford, H Marshall, J Clark, E Elliott, R Booy, A C Cheng, C A Jones
Background.: There are few longitudinal studies of seasonal influenza associated neurological disease (IAND) and none from the Southern hemisphere. Methods.: We extracted prospectively acquired Australian surveillance data from two studies nested within the Paediatric Active Enhanced Disease Surveillance (PAEDS) network: the Influenza Complications Alert Network (FluCAN) study and the Australian Childhood Encephalitis (ACE) study between 2013 and 2015. We described the clinical features and severity of IAND in children, including influenza associated encephalitis/encephalopathy (IAE)...
April 29, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28458551/levodopa-responsive-depression-associated-with-corticobasal-degeneration-a-case-report
#12
Natsumi Tarakita, Haruo Nishijima, Norio Yasui-Furukori
A 60-year-old female was treated for depression with the antidepressant paroxetine for 13 years. The patient had experienced clumsiness and mild rigidity in the left hand, and had agraphia and mild subjective memory complaints for 3 years prior to admission in our hospital. She experienced exacerbated depression that included worsened depressive mood, lowered motivation, and suicidal ideation without precipitating stressful life events for 2 years prior to admission, and although she had continued taking the antidepressant, these symptoms were not ameliorated by increasing the dose of paroxetine...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28457650/orthostatic-myoclonus-after-brain-tumor-radiation-insights-from-two-lesional-cases
#13
Jeremy K Cutsforth-Gregory, Julie E Hammack, Joseph Y Matsumoto
INTRODUCTION: Orthostatic myoclonus (OM) is a recognized syndrome of gait unsteadiness accompanied by lower limb myoclonus provoked by the assumption of an upright posture. OM typically affects the elderly and is often associated with neurodegenerative disease. We sought to review the clinical and electrophysiologic characteristics of OM due to brain tumor treatment, the first reported lesional cases of this rare disorder. METHODS: The database of the Mayo Clinic Rochester Movement Disorders Laboratory was searched for all patients diagnosed with OM from January 2007 to December 2016...
April 26, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28452847/ranolazine-associated-myoclonus
#14
Naveen Trehan, Manmohan Singh, Anupama R Kottam
No abstract text is available yet for this article.
April 25, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28442302/facial-twitches-in-adcy5-associated-disease-myokymia-or-myoclonus-an-electromyography-study
#15
Sinem Tunc, Norbert Brüggemann, Magdalena K Baaske, Corinna Hartmann, Karen Grütz, Ana Westenberger, Christine Klein, Alexander Münchau, Tobias Bäumer
OBJECTIVE: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia. METHODS: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena. RESULTS: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings...
April 20, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28432174/postintervention-acute-opsoclonus-myoclonus-syndrome
#16
Annelise Aquilina, Nicola Dingli, Josanne Aquilina
Opsoclonus myoclonus syndrome (OMS) is a rare, neurological condition affecting 1 in 10 000 000 people annually. Opsoclonus, defined as involuntary rapid, multivectorial oscillations of the eyes, together with ataxia and myoclonus are usually present. OMS may be paraneoplastic: often associated with occult neuroblastoma in childhood and with breast carcinoma or small cell lung carcinoma in adults. Other aetiologies include viral or toxic agents. The pathogenesis is thought to be immune mediated. A 37-year-old woman with previous inflammatory cranial mononeuropathies was admitted for elective dilatation and curettage (D&C)...
April 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28431757/anti-ammonia-treatment-responsive-myoclonus-as-initial-presentation-of-acquired-hepatocerebral-degeneration
#17
Roberto Monreal-Robles, Guillermo Delgado-García, Erik García-Valadez, Carlos R Cámara-Lemarroy, Ingrid Estrada-Bellmann
No abstract text is available yet for this article.
April 18, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28431624/opsoclonus-myoclonus-ataxia-associated-with-west-nile-virus-infection-a-dramatic-presentation-with-benign-prognosis
#18
Roy Zaltzman, Colin Klein, Carlos R Gordon
Opsoclonus myoclonus and ataxia is a combination of severe neurological signs associated with several pathologic agents and conditions. Only few cases of opsoclonus have been related to West Nile virus infection. We report on a 61-year-old woman and on a 55-year-old man who had history of recent fever, who were hospitalized because of acute severe truncal ataxia, opsoclonus and tremor with minimal myoclonic jerks. A through work-up revealed the presence of both IgM and IgG antibodies against West Nile virus both in the serum and Cerebrospinal Fluid and excluded other causes known to be associated with this combination of neurological signs...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28428906/tbc1d24-mutations-in-a-sibship-with-multifocal-polymyoclonus
#19
Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A Kurian
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28416624/teaching-video-neuroimages-maneuvers-to-elicit-opsoclonus-in-opsoclonus-myoclonus-syndrome
#20
Kyle W Mahoney, Daniel R Gold, Jiaying Zhang
No abstract text is available yet for this article.
April 18, 2017: Neurology
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