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Myoclonus

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1. A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon. Full Text available with Trip Pro

A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon. Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare neurological condition. Its clinical characteristics include axial and limb muscle rigidity, myoclonus, painful spasms and hyperekplexia. Diagnosis of this disease can be very challenging and optimal long-term treatment is unclear.We report a case of a 62 year old patient (...) admitted for repetitive myoclonus and rigidity in the lower limbs progressing since 10 years, associated with a fluctuating encephalopathy requiring stays in Intensive Care Unit. Multiple diagnostics and treatment were proposed, unsuccessfully, before the diagnosis of PERM syndrome was established. In association with the clinical presentation, a strong positive result for GAD (glutamic acid decarboxylase) antibodies lead to the diagnosis of PERM syndrome.PERM syndrome is a rare disease and its

2018 BMC Neurology

2. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. (Abstract)

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males.To describe a new and consistent phenotype in 4 affected male patients associated (...) presented a tightly consistent early-onset movement disorder combining an exaggerated startle reflex with generalized chorea and multifocal myoclonus. The unreported GRIA3 missense variant c.2477G > A; p.(Gly826Asp) affecting the fourth transmembrane domain of the protein was identified in index patients and their unaffected mothers. Functional studies revealed that variant receptors show decreased current response evoked by agonist (ie, kainic acid and glutamate) and reduced expression on the cell

2020 Movement Disorders

3. Unravelling the enigma of cortical tremor and other forms of cortical myoclonus. (Abstract)

Unravelling the enigma of cortical tremor and other forms of cortical myoclonus. Cortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE), a syndrome not yet officially recognized and characterized by clinical and genetic heterogeneity. Non-coding repeat expansions (...) in different genes have been recently recognized to play an essential role in its pathogenesis. Cortical tremor is considered a rhythmic variant of cortical myoclonus and is part of the 'spectrum of cortical myoclonus', i.e. a wide range of clinical motor phenomena, from reflex myoclonus to myoclonic epilepsy, caused by abnormal sensorimotor cortical discharges. The aim of this update is to provide a detailed analysis of the mechanisms defining cortical tremor, as seen in FCMTE. After reviewing

2020 Brain

4. A Novel Technique for the Diagnosis and Management of Middle Ear Myoclonus. (Abstract)

A Novel Technique for the Diagnosis and Management of Middle Ear Myoclonus. A novel technique for the diagnosis and management of middle ear myoclonus is described. A patient with middle ear myoclonus underwent a trans-canal microscopic middle ear exploration with injection of botulinum toxin into the stapedius and tensor tympani muscles. Postoperatively, the patient noted complete resolution of symptoms. This is the first report of the use of botulinum toxin directly applied to the middle ear (...) musculature via a trans-canal approach for the management of middle ear myoclonus. This approach is both a useful diagnostic and therapeutic tool that allows for temporary muscle paralysis prior to offering definitive surgical management. Laryngoscope, 2020.© 2020 The American Laryngological, Rhinological and Otological Society, Inc.

2020 Laryngoscope

5. Nalbuphine pretreatment for prevention of etomidate induced myoclonus: A prospective, randomized and double-blind study. (Abstract)

Nalbuphine pretreatment for prevention of etomidate induced myoclonus: A prospective, randomized and double-blind study. Etomidate induced myoclonus (EM) is a common and hazardous sequel. Premedication with a number of opioids has been shown to effectively attenuate EM. However, there is no reported literature evaluating the effect of nalbuphine pretreatment on EM. The present study was designed to evaluate the efficacy of 0.2 mg/kg nalbuphine intravenous (IV) pretreatment for prevention

2019 Journal of anaesthesiology, clinical pharmacology Controlled trial quality: predicted high

6. Comparison of pretreatment with dexmedetomidine with midazolam for prevention of etomidate-induced myoclonus and attenuation of stress response at intubation: A randomized controlled study. (Abstract)

Comparison of pretreatment with dexmedetomidine with midazolam for prevention of etomidate-induced myoclonus and attenuation of stress response at intubation: A randomized controlled study. Myoclonus is a common problem during induction of anesthesia with etomidate. A variety of drugs have been used to decrease the incidence of myoclonus. In this study we compared the effects of dexmedetomidine and midazolam pretreatment on the incidence of etomidate induced myoclonus. We also studied (...) the effects of these drugs on attenuation of stress response at laryngoscopy and intubation on induction with etomidate.Eighty adult patients (18 to 60 years age) of either sex, American Society of Anestheiologists physical status I and II undergoing elective general surgeries under general anesthesia were randomly allocated into two groups. Group D patients received Inj. Dexmedetomidine (0.5 μg/Kg) and Group M received Inj. Midazolam (0.015 mg/Kg) in 10 ml saline over ten minutes. Myoclonus was graded

2019 Journal of anaesthesiology, clinical pharmacology Controlled trial quality: uncertain

7. Intrathecal morphine combined with ropivacaine induces spinal myoclonus in cancer patients with an implanted intrathecal drug delivery system: Three case reports. Full Text available with Trip Pro

Intrathecal morphine combined with ropivacaine induces spinal myoclonus in cancer patients with an implanted intrathecal drug delivery system: Three case reports. Although intrathecal opioid infusion has been used for decades for the treatment of severe pain, myoclonus as one of the complications of this therapeutic modality is now beginning to be recognized more.Here, we report three patients who developed myoclonus after dose adjustment in intrathecal drug delivery system for the treatment (...) of refractory cancer pain.Spinal myoclonus is a sudden, brief, shock-like muscle contractions originating from the central nervous system. In our cases, it occurred after opioid administration via intrathecal delivery system with no abnormality found in laboratory or imaging examinations.Spinal myoclonus can be treated effectively by reducing the dose or infusion rate as described in case 1, or changing from an intrathecal to systemic administration in case 2, or correcting infusion and bolus parameters

2019 Medicine

8. Effect of dexmedetomidine on etomidate-induced myoclonus: a randomized, double-blind controlled trial. Full Text available with Trip Pro

Effect of dexmedetomidine on etomidate-induced myoclonus: a randomized, double-blind controlled trial. Background: Etomidate used for the induction of general anesthesia can result in myoclonus. We tested the hypothesis that pretreatment with dexmedetomidine (Dex) reduces the incidence of etomidate-induced myoclonus during the induction of general anesthesia. Materials and methods: One hundred patients who were scheduled for selective operations under general anesthesia were included (...) in this randomized, double-blind controlled trial. Patients were randomized to receive either Dex 0.5 µg/kg in 20 mL of normal saline or the same volume of normal saline as pretreatment agents 15 mins before the injection of etomidate 0.3 mg/kg. The primary endpoint was the incidence of etomidate-induced myoclonus. Secondary endpoints were the severity of etomidate-induced myoclonus and the incidence of adverse effects from the onset of action of Dex or normal saline to the injection of etomidate

2019 Drug design, development and therapy Controlled trial quality: predicted high

9. Effect of Fentanyl and Nalbuphine for Prevention of Etomidate-Induced Myoclonus. Full Text available with Trip Pro

Effect of Fentanyl and Nalbuphine for Prevention of Etomidate-Induced Myoclonus. Etomidate is a potent intravenous inducing agent with known undesirable side effects such as myoclonus and pain on injection in nonpremedicated patients.The aim of this study is to compare the effect of fentanyl and nalbuphine in the prevention of etomidate-induced myoclonus.Randomized double-blind, placebo-controlled, and prospective comparative study.A total of 120 patients were randomly allocated to one (...) of the three groups containing 40 patients each for intravenous administration of fentanyl 2 μg/kg diluted in 10 mL normal saline (NS) (Group 1), nalbuphine 0.3 mg/kg diluted in 10 mL NS (Group 2), and only 10 mL NS (Group 3) over 10 min. All groups subsequently received 0.3 mg/kg etomidate by intravenous bolus injection over 15-20 s and were assessed for the severity of pain using Grade IV pain scale and observed for myoclonus for 2 min and graded according to clinical severity. Serum creatinine

2019 Anesthesia, essays and researches Controlled trial quality: uncertain

10. Visual sensory processing is altered in myoclonus dystonia. (Abstract)

Visual sensory processing is altered in myoclonus dystonia. Abnormal sensory processing, including temporal discrimination threshold, has been described in various dystonic syndromes.To investigate visual sensory processing in DYT-SGCE and identify its structural correlates.DYT-SGCE patients without DBS (DYT-SGCE-non-DBS) and with DBS (DYT-SGCE-DBS) were compared to healthy volunteers in three tasks: a temporal discrimination threshold, a movement orientation discrimination, and movement speed (...) among the groups in other tasks. The sensory mean growth rate (μ) was lower in DYT-SGCE in all three tasks (P < 0.01), reflecting a slower rate of sensory accumulation for the visual information in these patients independent of DBS. Structural imaging analysis showed a thicker left primary visual cortex (P = 0.001) in DYT-SGCE-non-DBS compared to healthy volunteers, which also correlated with lower μ in temporal discrimination threshold (P = 0.029). In DYT-SGCE-non-DBS, myoclonus severity also

2019 Movement Disorders

11. Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction. (Abstract)

Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction. Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia (...) , and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants

2019 Movement Disorders

12. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Full Text available with Trip Pro

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement (...) disorders, the Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders (2012) advocates and renews the naming system of locus symbols. Here, we propose a nomenclature for myoclonus syndromes and related disorders with myoclonic jerks (hyperekplexia and myoclonic epileptic encephalopathies) to guide clinicians in their diagnostic approach to patients with these disorders. Sixty-seven genes were included in the nomenclature. They were divided into 3 subgroups: prominent

2019 Movement Disorders

13. Spinal cord α-synuclein deposition associated with myoclonus in patients with MSA-C. (Abstract)

Spinal cord α-synuclein deposition associated with myoclonus in patients with MSA-C. To test the hypothesis that myoclonus in patients with multiple system atrophy with predominant cerebellar ataxia (MSA-C) is associated with a heavier burden of α-synuclein deposition in the motor regions of the spinal cord, we compared the degree of α-synuclein deposition in spinal cords of 3 patients with MSA-C with myoclonus and 3 without myoclonus.All human tissue was obtained by the Massachusetts General (...) different regions of interest (ROIs) in the spinal cord: dorsal column, anterior white column, left and right dorsal horns, left and right anterior horns, and left and right lateral corticospinal tracts. A mixed-effect, multiple linear regression model was constructed to determine if patients with and without myoclonus had significantly different distributions of α-synuclein deposition across the various ROIs.Patients with myoclonus had more α-synuclein in the anterior horns (p < 0.001) and lateral

2019 Neurology

14. Spinal cord stimulation for complex regional pain syndrome type I with spinal myoclonus - a case report and review of literature. (Abstract)

Spinal cord stimulation for complex regional pain syndrome type I with spinal myoclonus - a case report and review of literature. Complex regional pain syndrome (CRPS) is a chronic neuropathic painful condition, sometimes associated with spinal myoclonus. For intractable cases spinal cord stimulation is an important modality of treatment but the response of specifically myoclonus to this treatment is not well described.A 40-year old male, had a history of trauma 12 years back since when he had (...) intractable neuropathic pain in his both upper limbs with superimposed severely disabling myoclonic jerks. He had been through multiple treatment failures. We inserted a cervical spinal cord stimulator which led to immediate cessation of myoclonic jerks, with significant improvement in visual analogue score and Oswestry disability index.In patients of chronic intractable cervico-brachial pain disorder with superimposed myoclonus, cervical spinal cord stimulation may be effective against the myoclonus

2019 British Journal of Neurosurgery

15. Treatment of objective tinnitus with transpalatal Botox<sup>®</sup> injection in a pediatric patient with middle ear myoclonus: A case report. (Abstract)

Treatment of objective tinnitus with transpalatal Botox® injection in a pediatric patient with middle ear myoclonus: A case report. We describe a case of bilateral middle ear myoclonus (MEM) that was treated with trans-palatal Botox® injection after failing surgery to section the tensor tympani and stapedial tendons. MEM is a rare disorder resulting from rhythmic contraction of middle ear muscles. An 8-year old girl presented with audible clicking tinnitus, and resultant inability

2019 International Journal of Pediatric Otorhinolaryngology

16. Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report. Full Text available with Trip Pro

Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report. The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family.The 21 (...) -year-old male proband suffered from frequent myoclonus at 11 years old with subsequent progressive ataxia. His elder maternal half-sister also experienced myoclonus. Genomic DNA of the patients was extracted from the peripheral blood cells of the proband, elder maternal half-sister, parents, and uncle of the proband. Targeted next-generation sequencing was used to screen gene mutations in the proband. The potential functional effects of mutations within SCN2A were predicted In silico

2019 Medicine

17. Stiff limb syndrome with lower limb myoclonus: A case report. Full Text available with Trip Pro

Stiff limb syndrome with lower limb myoclonus: A case report. stiff limb syndrome (SLS) is a variant of stiff-man syndrome, primarily affecting a specific limb. Its diagnosis has always been challenging due to the lack of a specific confirmation test. We present a rare case of a patient with lower limb myoclonus and rigidity.A 53-year-old male presented with a sudden onset of progressive left lower extremity myoclonus and muscle rigidity for 3 days. He rapidly showed signs of right lower limb (...) improvements were seen later on after the local administration of botulinum toxin A.Stiff limb syndrome shares the same complex symptoms with many other conditions. Its diagnosis relies heavily on clinical presentations and on ruling out other conditions. However, unusual symptoms such as myoclonus can occur in few cases and together with the rarity of the condition, the prevalence of misdiagnosis is high. Therefore, being aware and recognizing the signs and symptoms is crucial for proper management

2019 Medicine

18. 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

19. 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. Full Text available with Trip Pro

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 Controlled trial quality: uncertain

20. IGF-1 alleviates serum IgG-induced neuronal cytolysis through PI3K signaling in children with opsoclonus-myoclonus syndrome and neuroblastoma. (Abstract)

IGF-1 alleviates serum IgG-induced neuronal cytolysis through PI3K signaling in children with opsoclonus-myoclonus syndrome and neuroblastoma. Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder, usually accompanied by neuroblastoma (NB). There is no targeted treatment and animal model of OMS. We aimed to investigate whether insulin-like growth factor 1 (IGF-1)/phosphoinositide 3-kinase (PI3K) signaling alleviates neuronal cytolysis in pediatric OMS.Cultured rat cerebral

2018 Pediatric Research

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