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Myoclonus

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41. Orthostatic Tremor and Orthostatic Myoclonus: Weight-bearing Hyperkinetic Disorders: A Systematic Review, New Insights, and Unresolved Questions. (PubMed)

Orthostatic Tremor and Orthostatic Myoclonus: Weight-bearing Hyperkinetic Disorders: A Systematic Review, New Insights, and Unresolved Questions. Orthostatic tremor (OT) and orthostatic myoclonus (OM) are weight-bearing hyperkinetic movement disorders most commonly affecting older people that induce "shaky legs" upon standing. OT is divided into "classical" and "slow" forms based on tremor frequency. In this paper, the first joint review of OT and OM, we review the literature and compare (...) and contrast their demographic, clinical, electrophysiological, neuroimaging, pathophysiological, and treatment characteristics.A PubMed search up to July 2016 using the phrases "orthostatic tremor," "orthostatic myoclonus," "shaky legs," and "shaky legs syndrome" was performed.OT and OM should be suspected in older patients reporting unsteadiness with prolonged standing and/or who exhibit cautious, wide-based gaits. Surface electromyography (SEMG) is necessary to verify the diagnoses. Functional

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2017 Tremor and other hyperkinetic movements (New York, N.Y.)

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

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

43. Propofol decreases etomidate-related myoclonus in gastroscopy. (PubMed)

Propofol decreases etomidate-related myoclonus in gastroscopy. Myoclonus, a common complication during intravenous induction with etomidate, is bothersome to both anesthesiologists and patients. This study explored the preventive effect of pretreatment with propofol on etomidate-related myoclonus.This was a prospective, double-blind, clinical, randomized controlled study. Totally, 363 patients who were scheduled for a short-duration, painless gastrointestinal endoscopy were divided into 5 (...) groups. Four groups received 0 mg/kg (E group), 0.25 mg/kg (LPE group), 0.50 mg/kg (MPE group), or 0.75 mg/kg (HPE group) propofol pretreatment before etomidate anesthesia. Another group only received 1 to 2 mg/kg of propofol (P group) as anesthesia. The incidence and severity of myoclonus, patient circulation and respiratory status, and intraoperative and postoperative complications were recorded.The incidence of myoclonus in the LPE group (26.8%), MPE group (16.4%), HPE group (14.9%), and P group

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2017 Medicine

44. Parecoxib sodium pretreatment reduces myoclonus after etomidate: A prospective, double-blind, randomized clinical trial
. (PubMed)

Parecoxib sodium pretreatment reduces myoclonus after etomidate: A prospective, double-blind, randomized clinical trial
. Myoclonus induced by etomidate during induction of general anesthesia is a common phenomenon. This prospective, randomized, saline-controlled clinical study was performed to evaluate the effect of parecoxib sodium pretreatment on the incidence and severity of etomidate-induced myoclonus.60 patients, American Society of Anesthesiologists (ASA) physical status I or II, aged 20 (...) to 60 years, who were scheduled to undergo elective laparoscopic cholecystectomy under general anesthesia, were allocated randomly into one of two groups to receive parecoxib sodium 40 mg intravenous (group P, n = 30) or the same volume of saline (group S, n = 30) 30 minutes before administration of etomidate (0.3 mg/kg). Myoclonus was assessed on a scale of 0 - 3. Postoperative side effects were recorded.The two groups were comparable with regard to baseline characteristics. The incidence

2017 International journal of clinical pharmacology and therapeutics

45. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties. (PubMed)

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies (...) were conducted using whole cell patch-clamp to explore biophysical properties of wild-type and mutant KV 3.1 channels.Symptoms began at between 3 and 15 years of age (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures. Ataxia was present early, but quickly became overshadowed by myoclonus; 10 patients were wheelchair-bound by their late teenage years. Mild cognitive decline occurred in half. Early death was not observed. Electroencephalogram (EEG) showed generalized

2017 Annals of Neurology

46. Effect of pretreatment with midazolam on etomidate-induced myoclonus: A meta-analysis. (PubMed)

Effect of pretreatment with midazolam on etomidate-induced myoclonus: A meta-analysis. Objective To investigate the effect of pretreatment with midazolam on myoclonus induced by etomidate injection. Methods A meta-analysis was performed using Review Manager software, version 5.2. Two researchers independently searched PubMed, Cochrane Library, and Embase® databases for randomized controlled trials involving patients who underwent etomidate induced general anaesthesia with or without midazolam (...) pretreatment, published between 1990 and 2016. Outcome measures comprised overall myoclonus incidence rate and incidence rate classified by degree of myoclonus following etomidate injection. Data were assessed using a fixed effects model. Results Five studies, comprising 302 patients, were included for analysis. Overall incidence rate of etomidate injection-induced myoclonus was significantly lower in the pooled midazolam group versus controls (relative risk [RR] 0.34, 95% confidence interval [CI] 0.26

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2017 The Journal of international medical research

47. Effect of dexmedetomidine in preventing etomidate-induced myoclonus: a meta-analysis. (PubMed)

Effect of dexmedetomidine in preventing etomidate-induced myoclonus: a meta-analysis. To investigate the effect of dexmedetomidine in the prevention of etomidate-induced myoclonus.We searched for randomized controlled trials (RCTs) regarding the use of dexmedetomidine in preventing etomidate-induced myoclonus in the databases PubMed, EMBASE, the Cochrane Library, and CNKI. We extracted data and assessed the quality of the literature and adopted RevMan 5.2 to conduct meta-analysis on each (...) effective index and employed funnel plot to test publication bias.The results showed that the incidence of etomidate-induced myoclonus in the dexmedetomidine treated groups was significantly lower than that of the control groups (risk ratio [RR]=0.27, 95% confidence interval [CI] [0.15, 0.47], P<0.00001). With regard to the severity of etomidate-induced myoclonus, incidences of etomidate-induced myoclonus in the dexmedetomidine treated groups resulting in mild myoclonus (RR=0.37, 95% CI [0.19, 0.75], P

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2017 Drug design, development and therapy

48. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. (PubMed)

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

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2017 Epilepsia

49. Differentiating fasciculations from myoclonus in motor neuron disease (PubMed)

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

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2017 Clinical Neurophysiology Practice

50. Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies (PubMed)

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

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2017 Disease models & mechanisms

51. Large fasciculation can clinically manifest as spinal myoclonus; electromyographic and dynamic echomyographic studies of four cases with motor neuron disease (PubMed)

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

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2017 Clinical Neurophysiology Practice

52. The Benefit of Neuromuscular Blockade in Patients with Postanoxic Myoclonus Otherwise Obscuring Continuous Electroencephalography (CEEG) (PubMed)

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

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2017 Critical care research and practice

53. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia (PubMed)

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.

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2017 Scientific reports

54. A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus (PubMed)

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.

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2017 Clinical Neurophysiology Practice

55. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study (PubMed)

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

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2017 Orphanet journal of rare diseases

56. Myoclonus of ipsilateral upper extremity after ultrasound-guided supraclavicular brachial plexus block with mepivacaine (PubMed)

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

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2017 Korean journal of anesthesiology

57. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia (PubMed)

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.

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2017 Neurogenetics

58. Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome (PubMed)

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.

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2017 Journal of movement disorders

59. Botulinum Toxin A for Treatment of Diaphragmatic Myoclonus (PubMed)

Botulinum Toxin A for Treatment of Diaphragmatic Myoclonus 28303865 2018 09 05 2018 11 13 2542-5641 130 6 2017 Mar 20 Chinese medical journal Chin. Med. J. Botulinum Toxin A for Treatment of Diaphragmatic Myoclonus. 753-754 10.4103/0366-6999.201615 He Yi-Jing YJ Department of Neurology, Shanghai Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China. Li Bing B Department of Neurology, Shanghai Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China (...) Botulinum Toxins, Type A administration & dosage Diaphragm physiopathology Electromyography Humans Male Middle Aged Myoclonus drug therapy 2017 3 18 6 0 2017 3 18 6 0 2018 9 6 6 0 ppublish 28303865 ChinMedJ_2017_130_6_753_201615 10.4103/0366-6999.201615 PMC5358432 Neurologia. 2015 May;30(4):249-51 24011669 Mov Disord. 2009 Jul 15;24(9):1401 19373937 Handb Clin Neurol. 2011;100:617-28 21496611 Arch Dermatol. 2004 Nov;140(11):1351-4 15545544 Mov Disord. 2005 Aug;20(8):917-8 16007667

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2017 Chinese medical journal

60. Treatment of Propriospinal Myoclonus at Sleep Onset (PubMed)

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

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2017 Journal of clinical neurology (Seoul, Korea)

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