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Myoclonus

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21. Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement (PubMed)

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically (...) present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing

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2018 Molecular genetics and metabolism reports

22. Conservative management of severe serotonin syndrome with coma, myoclonus, and crossed-extensor reflex complicated by hepatic encephalopathy (PubMed)

Conservative management of severe serotonin syndrome with coma, myoclonus, and crossed-extensor reflex complicated by hepatic encephalopathy Serotonin syndrome (SS) is an underrecognized and potentially fatal disorder that occurs secondary to combinational use or overdose of a single serotonergic medication. The presentation may be complicated by hepatic encephalopathy in cirrhotic patients, which may also affect metabolism of these serotonergic agents. The authors report a rare case of severe

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2018 Proceedings (Baylor University. Medical Center)

23. Comparison of different doses of intravenous lignocaine on etomidate-induced myoclonus: A prospective randomised and placebo-controlled study (PubMed)

Comparison of different doses of intravenous lignocaine on etomidate-induced myoclonus: A prospective randomised and placebo-controlled study Etomidate-induced myoclonus (EM) is observed in 50%-80% of unpremedicated patients. Low-dose lignocaine has been shown to attenuate but not abolish the EM. The aim of this prospective, randomised controlled study was to compare the different doses of lignocaine on the incidence and severity of EM.Two hundred adult patients were randomly assigned into four (...) groups to receive saline placebo (Group I) or IV lignocaine 0.5 mg/kg (Group II), 1 mg/kg (Group III) or 1.5 mg/kg (Group IV) 2 min before injection etomidate 0.3 mg/kg IV. The patients were assessed for the EM using a four-point intensity scoring system. Our primary outcome was the incidence of myoclonus at 2 min (EM2). The incidence of myoclonus at 1 min (EM1) and severity of myoclonus constituted the secondary outcomes. ANOVA and Pearson Chi-square test were used for statistical analysis and P

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2018 Indian journal of anaesthesia

24. Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus (PubMed)

Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain-of-function mutations that alter the biophysical properties of the channel. Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A (...) variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment. Functional analysis of the p.Pro1719Arg variant in transfected neuron-derived cells demonstrated greatly reduced Nav 1.6 channel activity without altered gating properties. Hypomorphic alleles of Scn8a in the mouse are known to result in similar movement disorders. This study expands the phenotypic and functional spectrum of SCN8A

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2018 Human mutation

25. Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure (PubMed)

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure Progressive myoclonus epilepsies (PMEs) comprise a group of rare genetic disorders characterized by action myoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected. The aim of this study was to report an action myoclonus

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2018 Chinese medical journal

26. Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. (PubMed)

Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. No previous clinical trial has been conducted for patients with neuroblastoma associated opsoclonus myoclonus ataxia syndrome (OMA), and current treatment is based on case reports. To evaluate the OMA response to prednisone and risk-adapted chemotherapy and determine if the addition

2018 The Lancet. Child & Adolescent Health

27. Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability (PubMed)

Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common.We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have

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2018 Tremor and Other Hyperkinetic Movements

28. NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement (PubMed)

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may (...) be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and myoclonus at the daughter. The father had hypogonadotropic

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2018 Frontiers in genetics

29. Opsoclonus-Myoclonus Syndrome Associated With West-Nile Virus Infection: Case Report and Review of the Literature (PubMed)

Opsoclonus-Myoclonus Syndrome Associated With West-Nile Virus Infection: Case Report and Review of the Literature Opsoclonus-myoclonus syndrome (OMS) is a very rare condition with different autoimmune, infectious and paraneoplastic aetiologies or in most cases idiopathic. We report the case of a 75-year-old woman who was admitted in our department in early fall for altered mental status, opsoclonus, multifocal myoclonus, truncal titubation and generalized tremor, preceded by a 5 day prodrome (...) consisting of malaise, nausea, fever and vomiting. Brain computed tomography and MRI scans showed no significant abnormalities and cerebrospinal fluid changes consisted of mildly increased protein content and number of white cells. Work-up for paraneoplastic and autoimmune causes of OMS was negative but serologic tests identified positive IgM and IgG antibodies against West Nile virus (WNV). The patient was treated with Dexamethasone and Clonazepam with progressive improvement of mental status, myoclonus

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2018 Frontiers in neurology

30. Pretreatment with lidocaine reduces both incidence and severity of etomidate-induced myoclonus: a meta-analysis of randomized controlled trials (PubMed)

Pretreatment with lidocaine reduces both incidence and severity of etomidate-induced myoclonus: a meta-analysis of randomized controlled trials One conundrum that frequently occurs during clinical anesthesia is etomidate-induced myoclonus, which results in multiple risks. The aim of the study was to evaluate systematically the effect of pretreatment with lidocaine on preventing etomidate-induced myoclonus.The literature search was performed from the inception to April 2018 in PubMed, Embase (...) , Cochrane Library, and China National Knowledge Infrastructure. All randomized controlled trials that used lidocaine to prevent etomidate-induced myoclonus were enrolled. The primary outcome included the incidence and severity of etomidate-induced myoclonus. The data were combined to calculate the risk ratio and relevant 95% CI. A meta-analysis was performed following the guidelines of the Cochrane Reviewer's Handbook and the Preferred Reporting Items for Systematic Reviews and Meta Analyses statement.A

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2018 Drug design, development and therapy

31. Progressive myoclonus ataxia: Time for a new definition? (PubMed)

Progressive myoclonus ataxia: Time for a new definition? The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes.The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical characteristics in patients with progressive myoclonus ataxia and with isolated cortical myoclonus.A retro- and prospective analysis (...) was performed in our tertiary referral center between 1994 and 2014. Inclusion criteria for progressive myoclonus ataxia patients were the presence of myoclonus and ataxia with or without infrequent (all types, treatment responsive) epileptic seizures. Inclusion criteria for isolated cortical myoclonus was the presence of isolated cortical myoclonus. Clinical and electrophysiological characteristics data were systematically scored.A total of 14 progressive myoclonus ataxia patients (males, 7; females, 7

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2018 Movement Disorders

32. Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome. (PubMed)

Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome. To identify neuronal surface antibodies in opsoclonus myoclonus ataxia syndrome (OMAS) using contemporary antigen discovery methodology.OMAS patient serum immunoglobulin G immunohistochemistry using age-equivalent rat cerebellar tissue was followed by immunoprecipitation, gel electrophoresis, and mass spectrometry. Data are available via ProteomeXchange (identifier PXD009578). This generated a list

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2018 Neurology

33. Myoclonus from Antibiotic Therapy (Ceftazidime-induced Neurotoxicity): A Case Report and Review (PubMed)

Myoclonus from Antibiotic Therapy (Ceftazidime-induced Neurotoxicity): A Case Report and Review A 78-year-old Chinese man with a history of end-stage renal disease (ESRD) presented with fever of one-day duration. He was treated for catheter-related sepsis with intravenous piperacillin and tazobactam, which was later switched to vancomycin and ceftazidime secondary to persistent fever with negative cultures. On the fifth day of treatment with vancomycin and ceftazidime, he developed new-onset (...) upper limb myoclonus which progressed to bilateral upper limb ataxia. A provisional diagnosis of myoclonus and ataxia secondary to neurotoxicity related to ceftazidime was made and the ceftazidime was ceased. His symptoms resolved over three days and he returned to his baseline neurological status by day 5 following cessation.

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2018 Cureus

34. Effectiveness of Combining Behavioral Treatment With Valproic Acid for Dysphagia Caused by Palatal Myoclonus in Patients With Stroke: Two Case Reports (PubMed)

Effectiveness of Combining Behavioral Treatment With Valproic Acid for Dysphagia Caused by Palatal Myoclonus in Patients With Stroke: Two Case Reports Palatal myoclonus (PM) is a rare disease that may induce dysphagia. Since dysphagia related to PM is unique and is characterized by myoclonic movements of the involved muscles, specific treatments are needed for rehabilitation. However, no study has investigated the treatment effectiveness for this condition. Therefore, the aim of this case

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2018 Annals of rehabilitation medicine

35. The interrelation between clinical presentation and neurophysiology of posthypoxic myoclonus (PubMed)

The interrelation between clinical presentation and neurophysiology of posthypoxic myoclonus Posthypoxic myoclonus (PHM) in the first few days after resuscitation can be divided clinically into generalized and focal (uni- and multifocal) subtypes. The former is associated with a subcortical origin and poor prognosis in patients with postanoxic encephalopathy (PAE), and the latter with a cortical origin and better prognosis. However, use of PHM as prognosticator in PAE is hampered by the modest (...) ).Clinically assessed origin of PHM did not match the result obtained with neurophysiology: cortical PHM was more likely present in generalized than in focal PHM. In addition, some cases demonstrated co-occurrence of cortical and subcortical myoclonus. Patients that recovered from PAE had cortical myoclonus (1 generalized, 1 focal).Hypoxic damage to variable cortical and subcortical areas in the brain may lead to mixed and varying clinical manifestations of myoclonus that differ of those patients

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2018 Annals of clinical and translational neurology

36. Oxycodone for prevention of etomidate-induced myoclonus: a randomized double-blind controlled trial (PubMed)

Oxycodone for prevention of etomidate-induced myoclonus: a randomized double-blind controlled trial Objective This study was performed compare the effectiveness of oxycodone and fentanyl in reducing the incidence and severity of etomidate-induced myoclonus. Methods In total, 162 patients with an American Society of Anesthesiologists physical status of I or II were assigned at random to three groups. Patients assigned to Group O received 0.1 mg/kg of oxycodone (n = 54), those assigned to Group F (...) were given 1 µg/kg of fentanyl (n = 54), and those assigned to Group S were given an equal volume of saline intravenously 2 minutes prior to administration of 0.3 mg/kg of etomidate (n = 54). The incidence and severity of myoclonus was evaluated 2 minutes after etomidate administration. The patients' vital signs, coughing, nausea, dizziness, and other related adverse reactions were also recorded. Results The incidence of myoclonus was significantly lower in Group O (0.0%) than in Group F (31.5

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2018 The Journal of international medical research

37. A rare case of isolated myoclonus in an elderly male without a history of epilepsy (PubMed)

A rare case of isolated myoclonus in an elderly male without a history of epilepsy Through this case report we attempt to highlight the presentation, initial investigation and management of lingual myoclonus as well as consolidate relevant literature.We present a unique case of a 72-year-old man who was admitted to the hospital for a sudden onset episodic speech arrest. Lingual myoclonus, an isolated movement disorder, manifested as an intermittent expressive aphasia secondary to the intrusion (...) strokes, seizures, medications/toxins or CNS infections. Without a clear etiology on initial diagnostic evaluation, the patient was empirically treated as no clear guidelines exist. This case presentation is an attempt to add to the current understanding of lingual myoclonus.

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2018 Clinical Neurophysiology Practice

38. Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. (PubMed)

Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Recent research has highlighted the role of the cerebellum in the pathophysiology of myoclonus-dystonia syndrome as a result of mutations in the ɛ-sarcoglycan gene (DYT11). Specifically, a cerebellar-dependent saccadic adaptation task is dramatically impaired in this patient group.The objective of this study was to investigate whether saccadic deficits coexist with impairments of limb adaptation to provide a potential mechanism

2018 Movement Disorders

39. Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment. (PubMed)

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment. Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown. The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (...) (DYT11)-positive myoclonus-dystonia.Consecutive myoclonus-dystonia patients with ε-sarcoglycan mutations who underwent GPi-DBS were evaluated at least 5 years postoperatively. Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale including the Disability Scale, a composite score combining the rest and action parts of the Unified Myoclonus Rating Scale and modified Abnormal Involuntary Movement Scale. Standardized video-protocols were assessed by a blinded and external

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2018 Movement Disorders

40. Using dezocine to prevent etomidate-induced myoclonus: a meta-analysis of randomized trials. (PubMed)

Using dezocine to prevent etomidate-induced myoclonus: a meta-analysis of randomized trials. This study was designed to evaluate the efficacy and safety of preinjection of dezocine in preventing etomidate-induced myoclonus.PubMed, Embase, The Cochrane Library, and China National Knowledge Infrastructure (CNKI) were searched to collect relevant randomized controlled trials (RCTs) from inception to July 2016 on the preinjection of dezocine in preventing etomidate-induced myoclonus. Two (...) researchers independently screened literature, extracted data, and evaluated bias risks in accordance with inclusion and exclusion criteria, and then used RevMan 5.2 to perform the meta-analysis.A total of six RCTs were included in this study. The meta-analysis showed that 1) the preinjection of dezocine can reduce the incidence of etomidate-induced myoclonus (relative risk [RR] =0.25, 95% CI [0.13, 0.50], P<0.0001), which is consistent with the result of subgroup analysis; 2) the preinjection of dezocine

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2017 Drug design, development and therapy

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