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Myoclonus

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41. Conservative management of severe serotonin syndrome with coma, myoclonus, and crossed-extensor reflex complicated by hepatic encephalopathy Full Text available with Trip Pro

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

2018 Proceedings (Baylor University. Medical Center)

42. The interrelation between clinical presentation and neurophysiology of posthypoxic myoclonus Full Text available with Trip Pro

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

2018 Annals of clinical and translational neurology

43. Acute inability to mobilise resulting from probable donepezil-induced myoclonus. Full Text available with Trip Pro

Acute inability to mobilise resulting from probable donepezil-induced myoclonus. Donepezil is a commonly prescribed cholinesterase inhibitor in Alzheimer's dementia. We present a case of probable donepezil-induced generalised myoclonus causing total inability to mobilise in a 93-year-old woman.

2018 Age and ageing

44. Effects of transcutaneous acupoint electrical stimulation combined with low-dose sufentanil pretreatment on the incidence and severity of etomidate-induced myoclonus: A randomized controlled trial. Full Text available with Trip Pro

Effects of transcutaneous acupoint electrical stimulation combined with low-dose sufentanil pretreatment on the incidence and severity of etomidate-induced myoclonus: A randomized controlled trial. Myoclonus is an undesirable phenomenon that occurs after induction of general anesthesia using etomidate. Opioids such as sufentanil are considered effective pretreatment drugs for myoclonus inhibition, although high doses are required. Transcutaneous acupoint electrical stimulation (TAES (...) ), a noninvasive technique involving electrical stimulation of the skin at the acupuncture points, exhibits analgesic effects, promotes anesthetic effects, decreases the dose of anesthetic drugs, and increases endogenous opioid peptide levels. In the present study, we investigated the effects of TAES combined with low-dose sufentanil pretreatment on the incidence and severity of etomidate-induced myoclonus in patients undergoing elective hysteroscopy.In a double-blind manner, 172 patients (American Society

2018 Medicine Controlled trial quality: uncertain

45. Prevention of etomidate-induced myoclonus: an umbrella review protocol

Prevention of etomidate-induced myoclonus: an umbrella review protocol Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email salutation

2020 PROSPERO

46. Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation Full Text available with Trip Pro

Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation Myoclonus-dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE). In medically refractory cases, deep brain stimulation (DBS) has been shown to provide marked sustainable clinical improvement, especially in SGCE-positive patients. We present two patients (...) with myoclonus-dystonia (one SGCE positive and the other SGCE negative) who have the isolated myoclonus phenotype and had DBS leads implanted in the bilateral globus pallidus internus (GPi).We review their longitudinal Unified Myoclonus Rating Scale scores along with their DBS programming parameters and compare them with published cases in the literature.Both patients demonstrated complete amelioration of all aspects of myoclonus within 6-12 months after surgery. The patient with the SGCE-negative mutation

2016 Tremor and Other Hyperkinetic Movements

47. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Full Text available with Trip Pro

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome.Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2 patient registry and database. We reviewed medical (...) records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course.Nine patients had encephalopathy from birth and presented with prominent startle-like myoclonus, which could be triggered by sound or touch. In seven patients, electroencephalography (EEG) was performed in the neonatal period and showed a burst-suppression pattern. However, myoclonus did not have an EEG correlate. In many

2017 Epilepsia

48. Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies Full Text available with Trip Pro

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Qb-SNARE GOSR2, which forms a SNARE complex with syntaxin-5, Bet1 and Sec22b. Most PME patients are homo-zygous for a p.Gly144Trp mutation and develop

2017 Disease models & mechanisms

49. Large fasciculation can clinically manifest as spinal myoclonus; electromyographic and dynamic echomyographic studies of four cases with motor neuron disease Full Text available with Trip Pro

Large fasciculation can clinically manifest as spinal myoclonus; electromyographic and dynamic echomyographic studies of four cases with motor neuron disease Patients with motor neuron disease rarely present with fasciculation which is large enough to be clinically recognized as myoclonus. This study is aimed at elucidating the features of large fasciculation manifesting as myoclonus by using surface electromyography (surface EMG) and dynamic echomyography (dynamic Echo).Four patients (...) with amyotrophic lateral sclerosis, two of whom clinically presented with both fasciculation and myoclonus, were studied by using the surface EMG and the dynamic Echo.At rest, all patients had fasciculation in atrophic muscles, and the surface EMG showed occasional discharges of different waveforms corresponding to fasciculation. During voluntary gentle muscle contraction, the surface EMG showed repetitive discharges in the contracting muscle, which were constant in size and waveform within each muscle

2017 Clinical Neurophysiology Practice

50. Differentiating fasciculations from myoclonus in motor neuron disease Full Text available with Trip Pro

Differentiating fasciculations from myoclonus in motor neuron disease 30215002 2018 12 12 2467-981X 3 2018 Clinical neurophysiology practice Clin Neurophysiol Pract Differentiating fasciculations from myoclonus in motor neuron disease. 22-23 10.1016/j.cnp.2017.12.001 Walker Susan S Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia. Simon Neil G NG St Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW, Australia. eng Editorial 2017 12 20

2017 Clinical Neurophysiology Practice

51. Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation. (Abstract)

Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation. To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration.Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink (...) conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0.08% (0.8g/l). The alcohol responsiveness of clinical symptoms was evaluated by 3 blinded raters with a standardized video protocol and clinical rating scales including the Unified Myoclonus Rating Scale and the Burke-Fahn-Marsden Dystonia Rating Scale.Patients showed a significantly reduced number of conditioned eyeblink responses before alcohol administration compared to controls

2017 Annals of Neurology

52. Ultrasound as Diagnostic Tool for Diaphragmatic Myoclonus Full Text available with Trip Pro

Ultrasound as Diagnostic Tool for Diaphragmatic Myoclonus Diaphragmatic myoclonus is a rare disorder of repetitive diaphragmatic contractions, acknowledged to be a spectrum that includes psychogenic features. Electromyography has been the diagnostic tool most commonly used in the literature.To test if we could perform a noninvasive technique to delineate the diaphragm as the source of abnormal movements and demonstrate distractibility and entrainability, we used B-mode ultrasound in a patient (...) with diaphragmatic myoclonus.Ultrasound imaging clearly delineated the diaphragm as the source of her abdominal movements. We were able to demonstrate entrainability of the diaphragm to hand tapping to a prescribed rhythm set by examiner.We recommend the use of ultrasound as a noninvasive, convenient diagnostic tool for further studies of diaphragmatic myoclonus. We agree with previous findings that diaphragmatic myoclonus may be a functional movement disorder, as evidenced by distractibility and entrainability

2016 Movement disorders clinical practice

53. A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus Full Text available with Trip Pro

A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.A 66-year-old man had progressive gait disturbance, dysphagia, and easy fatigability of all extremities over a period of 4 years. Neurologically, muscle atrophy, fasciculation, and weakness were observed in the bulbar and limb muscles. When (...) the knees were kept in mild flexion in the supine position, fasciculation of the thigh adductor muscles was so large that it caused shock-like involuntary movements of the legs, corresponding to spinal myoclonus. A genetic test revealed 41 repeats of CAG in the androgen receptor gene, and the diagnosis of BSMA was made.The present case suggests that extremely large fasciculation can cause spinal myoclonus.

2017 Clinical Neurophysiology Practice

54. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia Full Text available with Trip Pro

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed (...) , neuronal protein levels were reduced in both mutants. Our phenotypic characterization highlights the suitability of iPSC-derived cortical neurons with SGCE mutations for myoclonus-dystonia research and, in more general terms, prompts the use of iPSC-derived cellular models to study epigenetic mechanisms impacting on health and disease.

2017 Scientific reports

55. The Benefit of Neuromuscular Blockade in Patients with Postanoxic Myoclonus Otherwise Obscuring Continuous Electroencephalography (CEEG) Full Text available with Trip Pro

The Benefit of Neuromuscular Blockade in Patients with Postanoxic Myoclonus Otherwise Obscuring Continuous Electroencephalography (CEEG) Introduction. Myoclonus status epilepticus is independently associated with poor outcome in coma patients after cardiac arrest. Determining if myoclonus is of cortical origin on continuous electroencephalography (CEEG) can be difficult secondary to the muscle artifact obscuring the underlying CEEG. The use of a neuromuscular blocker can be useful (...) in these cases. Methods. Retrospective review of CEEG in patients with postanoxic myoclonus who received cisatracurium while being monitored. Results. Twelve patients (mean age: 53.3 years; 58.3% male) met inclusion criteria of clinical postanoxic myoclonus. The initial CEEG patterns immediately prior to neuromuscular blockade showed myoclonic artifact with continuous slowing (50%), burst suppression with myoclonic artifact (41.7%), and continuous myogenic artifact obscuring CEEG (8.3%). After intravenous

2017 Critical care research and practice

56. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia Full Text available with Trip Pro

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present (...) should be considered in cases with apparent myoclonus-dystonia, particularly where SCGE mutations have been excluded. ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes.

2017 Neurogenetics

57. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study Full Text available with Trip Pro

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy (...) . The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy.Four North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical

2017 Orphanet journal of rare diseases

58. Treatment of Propriospinal Myoclonus at Sleep Onset Full Text available with Trip Pro

Treatment of Propriospinal Myoclonus at Sleep Onset 28516739 2018 11 13 1738-6586 13 3 2017 Jul Journal of clinical neurology (Seoul, Korea) J Clin Neurol Treatment of Propriospinal Myoclonus at Sleep Onset. 293-295 10.3988/jcn.2017.13.3.293 Byun Jung Ick JI Department of Neurology, Kyung Hee University College of Medicine, Kyung Hee University Hospital at Gangdong, Seoul, Korea. Lee Dongwhane D Department of Neurology, Kyung Hee University College of Medicine, Kyung Hee University Hospital

2017 Journal of clinical neurology (Seoul, Korea)

59. Myoclonus of ipsilateral upper extremity after ultrasound-guided supraclavicular brachial plexus block with mepivacaine Full Text available with Trip Pro

Myoclonus of ipsilateral upper extremity after ultrasound-guided supraclavicular brachial plexus block with mepivacaine 29046780 2018 11 13 2005-6419 70 5 2017 Oct Korean journal of anesthesiology Korean J Anesthesiol Myoclonus of ipsilateral upper extremity after ultrasound-guided supraclavicular brachial plexus block with mepivacaine. 577-579 10.4097/kjae.2017.70.5.577 Kang Bong Jin BJ Department of Anesthesiology and Pain Medicine, Dankook University College of Medicine, Cheonan, Korea. Song

2017 Korean journal of anesthesiology

60. Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome Full Text available with Trip Pro

Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS). The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead (...) to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.

2017 Journal of movement disorders

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