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Marivi Nabong Moen, Roar Fjær, El Hassan Hamdani, Jon K Laerdahl, Robin Johansen Menchini, Magnus Dehli Vigeland, Ying Sheng, Dag Erik Undlien, Bjørnar Hassel, Mustafa A Salih, Heba Y El Khashab, Kaja Kristine Selmer, Farrukh Abbas Chaudhry
Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and myoclonic jerks. In his second year he lost the ability to walk and talk, and he developed drug-resistant progressive myoclonus epilepsy. The cerebrospinal fluid level of glutamate was decreased while glutamine was increased. His younger brother manifested similar symptoms from 6 months of age...
October 14, 2016: Brain: a Journal of Neurology
Simone Gallerini, Luca Marsili
No abstract text is available yet for this article.
October 11, 2016: Developmental Medicine and Child Neurology
Mishra Dhananjay, Jha Kumar Rajendra
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Nikhil Saxena, Priyank S Dumade, Rakesh Mp, Kshitija Jain, Ruju Gala
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
M Hallett
Functional neurologic disorders are largely genuine and represent conversion disorders, where the dysfunction is unconscious, but there are some that are factitious, where the abnormality is feigned and conscious. Malingering, which can have the same manifestations, is similarly feigned, but not considered a genuine disease. There are no good methods for differentiating these three entities at the present time. Physiologic studies of functional weakness and sensory loss reveal normal functioning of primary motor and sensory cortex, but abnormalities of premotor cortex and association cortices...
2017: Handbook of Clinical Neurology
Y E M Dreissen, D C Cath, M A J Tijssen
Functional jerks are among the most common functional movement disorders. The diagnosis of functional jerks is mainly based on neurologic examination revealing specific positive clinical signs. Differentiation from other jerky movements, such as tics, organic myoclonus, and primary paroxysmal dyskinesias, can be difficult. In support of a functional jerk are: acute onset in adulthood, precipitation by a physical event, variable, complex, and inconsistent phenomenology, suggestibility, distractibility, entrainment and a Bereitschaftspotential preceding the movement...
2017: Handbook of Clinical Neurology
(no author information available yet)
'Healthcare professionals need greater awareness of the features of benign neonatal sleep myoclonus to reduce the number of neonates undergoing unnecessary investigations and avoid misdiagnosis of the condition as epilepsy.'
October 7, 2016: Nursing Children and Young People
Harsh V Gupta, John N Caviness
BACKGROUND: Myoclonus may occur after hypoxia. In 1963, Lance and Adams described persistent myoclonus with other features after hypoxia. However, myoclonus occurring immediately after hypoxia may demonstrate different syndromic features from classic Lance-Adams syndrome (LAS). The aim of this review is to provide up-to-date information about the spectrum of myoclonus occurring after hypoxia with emphasis on neurophysiological features. METHODS: A literature search was performed on PubMed database from 1960 to 2015...
2016: Tremor and Other Hyperkinetic Movements
Michael Sweeney, Matthew Sweney, M Mateo Paz Soldán, Stacey L Clardy
BACKGROUND: Opsoclonus-myoclonus syndrome is a rare clinical condition that has been associated with neuroblastoma. There are few reported cases of the presence of ANNA-1/anti-Hu antibodies in children with neuroblastoma and opsoclonus-myoclonus, all in children aged less than 3 years. METHODS: We report the new onset of focal seizures without alteration of consciousness and opsoclonus-myoclonus in an 11-year-old girl with ANNA-1/anti-Hu positivity and a paraspinal ganglioneuroblastoma...
September 2, 2016: Pediatric Neurology
Julie Turnbull, Erica Tiberia, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A Ackerley, Berge A Minassian
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are formations of abnormal glycogen. Polyglucosans, or Lafora bodies (LB) are typically found in the brain, periportal hepatocytes of the liver, skeletal and cardiac myocytes, and in the eccrine duct and apocrine myoepithelial cells of sweat glands...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Giuliano Avanzini, Hiroshi Shibasaki, Guido Rubboli, Laura Canafoglia, Ferruccio Panzica, Silvana Franceschetti, Mark Hallett
The high temporal resolution of neurophysiological recordings makes them particularly suited to faithfully describing the time course of rapid events such as myoclonus and to precisely measure its time relationship with other related activities. In progressive myoclonus epilepsies (PMEs) polygraphy with simultaneous EMG-EEG recordings is a crucial tool for defining the characteristic of myoclonic jerks their topography over different muscles (namely antagonists), their time course and relationship with vigilance muscle activation and stimulations...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Noella Maria Delia Pereira, Ira Shah, Shilpa Kulkarni
Opsoclonus-myoclonus-ataxia (OMA) syndrome typically presents with chaotic eye movements and myoclonus with some patients exhibiting ataxia and behavioural disturbances. The pathogenesis may be inflammatory with an infectious or paraneoplastic trigger. We present a 13-year-old HIV-infected girl who was initially started on highly active antiretroviral therapy (HAART) in March 2013 with a CD4 count of 79 cells/cumm. Initially, the patient did not comply with treatment, resulting in a CD4+ count of 77 cells/mm(3) in November 2015 and prompting a new HAART scheme comprising lamivudine, tenofovir and ritonavir-boosted atazanavir...
October 2016: Oxford Medical Case Reports
Berge A Minassian, Pasquale Striano, Giuliano Avanzini
No abstract text is available yet for this article.
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Laura Cif, Philippe Coubes
BACKGROUND: Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. METHODS AND RESULTS: Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus...
September 7, 2016: European Journal of Paediatric Neurology: EJPN
Gaurav Bhaskar Nigam, Sachin Suresh Babu, C Sudhir Peter, C Shobhna Peter
Predicting the neurological outcome in survivors of cardiorespiratory arrest is difficult. A distinction has been made between acute and chronic posthypoxic myoclonus, called myoclonic status epilepticus and Lance-Adams syndrome (LAS), respectively, with the acute condition carrying a bad prognosis. Here, we report a case of a 37-year-old female who developed seizures after a successful cardiopulmonary resuscitation. The available literature on such cases is very rare and has generally mentioned a poor outcome...
September 2016: Indian Journal of Critical Care Medicine
Hee Yong Kang, Sang Wook Lee, Eun Pyo Hong, Yeo Hae Sim, Su-Mi Lee, Sung Wook Park, Jong-Man Kang
Spinal myoclonus following neuraxial anesthesia is rare. This report describes a case of myoclonus-like involuntary movement that occurred during the recovery from epidural anesthesia for a cesarean delivery. The patient's symptom improved with the administration of benzodiazepine, and the patient recovered with no neurological sequelae. In conclusion, epidural anesthesia can cause spinal myoclonus, which can be treated with a benzodiazepine.
November 2016: Journal of Clinical Anesthesia
Yusuke Toda, Mineo Yamazaki, Tomohiro Ota, Yosuke Fujisawa, Kazumi Kimura
A 64-year-old man with fever, appetite loss, and pain in the back of the neck visited our hospital. We diagnosed him as having bacterial meningitis because of pleocytosis of the cerebrospinal fluid, and started treatment with antibiotics. Multiple cerebral infarcts were found on brain MRI. We suspected that the origin of the bacterial meningitis was infective endocarditis, and administered Cefepime and Gentamicin according to the guidelines for treatment of infective endocarditis. Three days later, he became drowsy and had myoclonus and flapping of the extremities...
September 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
Ori Schnitzer, Joslyn F Gober, Kevin Dalal
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Hongmei Wang, Michelle Stern
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner, Joerg Mueller, Andres Ceballos-Baumann, Tim M Strom, Roberto Colombo, Werner Poewe, Bernhard Haslinger, Juliane Winkelmann
BACKGROUND: Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation. METHODS: Clinical whole-exome sequencing coupled with bioinformatics analysis and detailed phenotyping of mutation carriers was performed on 16 consecutive cases with genetically undefined early-onset generalized dystonia...
September 26, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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