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Myoclonus

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

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

2018 Movement Disorders

22. Progressive myoclonus ataxia: Time for a new definition? Full Text available with Trip Pro

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

2018 Movement Disorders

23. Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure Full Text available with Trip Pro

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

2018 Chinese medical journal

24. Comparison of priming versus slow injection for reducing etomidate-induced myoclonus: a randomized controlled study Full Text available with Trip Pro

Comparison of priming versus slow injection for reducing etomidate-induced myoclonus: a randomized controlled study Etomidate injection is often associated with myoclonus. Etomidate injection technique influences the incidence of myoclonus. This study was designed to clarify which of the two injection techniques-slow injection or priming with etomidate-is more effective in reducing myoclonus.This prospective randomized controlled study was conducted on 189 surgical patients allocated to three (...) study groups. Control group (Group C, n = 63) received 0.3 mg/kg etomidate (induction dose) over 20 s. Priming group (Group P, n = 63) received pretreatment with 0.03 mg/kg etomidate, followed after 1 min by an etomidate induction dose over 20 s. Slow injection group (Group S, n = 63) received etomidate (2 mg/ml) induction dose over 2 min. The patients were observed for occurrence and severity of myoclonus for 3 min from the start of injection of the induction dose.The incidence of myoclonus

2018 Korean journal of anesthesiology Controlled trial quality: uncertain

25. NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement Full Text available with Trip Pro

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

2018 Frontiers in genetics

26. Opsoclonus-Myoclonus Syndrome Associated With West-Nile Virus Infection: Case Report and Review of the Literature Full Text available with Trip Pro

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

2018 Frontiers in neurology

27. Wernekink commissure syndrome with palatal myoclonus at onset: a case report and review of the literature Full Text available with Trip Pro

Wernekink commissure syndrome with palatal myoclonus at onset: a case report and review of the literature Wernekink commissure syndrome causes a peculiar combination of internuclear ophthalmoplegia, dysarthria, and delayed-onset palatal myoclonus. Palatal myoclonus is thought to be secondary to delayed hypertrophic degeneration of the bilateral inferior olivary nuclei secondary to involvement of bilateral dentatoolivary tract. We describe a case of a patient with early-onset palatal myoclonus.A (...) 53-year-old Caucasian man with several vascular risk factors presented to our emergency room with slurred speech, double vision, difficulty with swallowing and walking, and rhythmic contractions of the soft palate. Brain magnetic resonance imaging showed an acute infarct of the right caudal midbrain and an old infarct of the right medulla. We hypothesize that the cause of early palatal myoclonus in our patient was a two-hit mechanism with degeneration of the right olivary nucleus resulting from

2018 Journal of medical case reports

28. Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus Full Text available with Trip Pro

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

2018 Human mutation

29. Myoclonus from Antibiotic Therapy (Ceftazidime-induced Neurotoxicity): A Case Report and Review Full Text available with Trip Pro

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.

2018 Cureus

30. Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement Full Text available with Trip Pro

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

2018 Molecular genetics and metabolism reports

31. A rare case of isolated myoclonus in an elderly male without a history of epilepsy Full Text available with Trip Pro

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.

2018 Clinical Neurophysiology Practice

32. Oxycodone for prevention of etomidate-induced myoclonus: a randomized double-blind controlled trial Full Text available with Trip Pro

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

2018 The Journal of international medical research Controlled trial quality: uncertain

33. Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability Full Text available with Trip Pro

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

2018 Tremor and Other Hyperkinetic Movements

34. Electrophysiologic testing aids diagnosis and subtyping of myoclonus. Full Text available with Trip Pro

Electrophysiologic testing aids diagnosis and subtyping of myoclonus. To determine the contribution of electrophysiologic testing in the diagnosis and anatomical classification of myoclonus.Participants with a clinical diagnosis of myoclonus were prospectively recruited, each undergoing a videotaped clinical examination and battery of electrophysiologic tests. The diagnosis of myoclonus and its subtype was reviewed after 6 months in the context of the electrophysiologic findings and specialist (...) review of the videotaped clinical examination.Seventy-two patients with myoclonus were recruited. Initial clinical anatomical classification included 25 patients with cortical myoclonus, 7 with subcortical myoclonus, 2 with spinal myoclonus, and 15 with functional myoclonic jerks. In 23 cases, clinical anatomical classification was not possible because of the complexity of the movement disorder. Electrophysiologic testing was completed in 66, with agreement of myoclonus in 60 (91%) and its subtype

2018 Neurology

35. Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome. Full Text available with Trip Pro

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

2018 Neurology

36. Electro-clinical Characteristics and Prognostic Significance of Post Anoxic Myoclonus. (Abstract)

Electro-clinical Characteristics and Prognostic Significance of Post Anoxic Myoclonus. To systematically examine the electro-clinical characteristics of post anoxic myoclonus (PAM) and their prognostic implications in comatose cardiac arrest (CA) survivors.Fifty-nine CA survivors who developed myoclonus within 72 h of arrest and underwent continuous EEG monitoring were included in the study. Retrospective chart review was performed for all relevant clinical variables including time of PAM onset (...) ("early onset" when within 24 h) and semiology (multi-focal, facial/ocular, whole body and limbs only). EEG findings including background, reactivity, epileptiform patterns and EEG correlate to myoclonus were reviewed at 6, 12, 24, 48 and 72 h after the return of spontaneous circulation (ROSC). Outcome was categorized as either with recovery of consciousness (Cerebral Performance Category (CPC) 1-3) or without recovery of consciousness (CPC 4-5) at the time of discharge.Seven of the 59 patients (11.9

2018 Resuscitation

37. Segmental Spinal Myoclonus Complicating Lumbar Transforaminal Epidural Steroid Injection. (Abstract)

Segmental Spinal Myoclonus Complicating Lumbar Transforaminal Epidural Steroid Injection. Lumbar transforaminal epidural steroid injection is commonly used for treating lumbar radicular pain. We report a case of segmental spinal myoclonus that developed during lumbar transforaminal epidural injection with local anesthetic and steroid.A 58-year-old woman with failed back surgery syndrome presented with low back and right L3 and L4 radicular pain. As she had responded well previously (...) no abnormalities from blood tests and magnetic resonance imaging of the lower thoracic and lumbar spine. A neurologist subsequently made the clinical diagnosis of segmental spinal myoclonus. The myoclonus improved over 1 month and eventually resolved completely.Segmental spinal myoclonus is a rare complication after lumbar transforaminal epidural steroid and local anesthetic injection. Pain physicians should be aware of this potential complication.

2018 Regional Anesthesia and Pain Medicine

38. Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Full Text available with Trip Pro

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. Effectiveness of Combining Behavioral Treatment With Valproic Acid for Dysphagia Caused by Palatal Myoclonus in Patients With Stroke: Two Case Reports Full Text available with Trip Pro

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

2018 Annals of rehabilitation medicine

40. Comparison of different doses of intravenous lignocaine on etomidate-induced myoclonus: A prospective randomised and placebo-controlled study Full Text available with Trip Pro

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

2018 Indian journal of anaesthesia Controlled trial quality: uncertain

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