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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. (PubMed)

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

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2018 BMC Neurology

2. Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report. (PubMed)

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

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2019 Medicine

3. Intrathecal morphine combined with ropivacaine induces spinal myoclonus in cancer patients with an implanted intrathecal drug delivery system: Three case reports. (PubMed)

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

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2019 Medicine

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

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

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

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

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. (PubMed)

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

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

8. Effect of dexmedetomidine on etomidate-induced myoclonus: a randomized, double-blind controlled trial. (PubMed)

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

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

9. Effect of Fentanyl and Nalbuphine for Prevention of Etomidate-Induced Myoclonus. (PubMed)

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

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2019 Anesthesia, essays and researches Controlled trial quality: uncertain

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

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

11. Visual sensory processing is altered in myoclonus dystonia. (PubMed)

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

12. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. (PubMed)

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

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2019 Movement Disorders

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

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. 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

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2018 The Lancet. Child & Adolescent Health Controlled trial quality: uncertain

15. Comparison of priming versus slow injection for reducing etomidate-induced myoclonus: a randomized controlled study. (PubMed)

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

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2018 Korean journal of anesthesiology Controlled trial quality: uncertain

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

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

17. 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

18. 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

19. Wernekink commissure syndrome with palatal myoclonus at onset: a case report and review of the literature (PubMed)

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

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2018 Journal of medical case reports

20. 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

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