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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. Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation (PubMed)

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

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2016 Tremor and Other Hyperkinetic Movements

3. 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

4. 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

2019 Medicine

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. 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

7. 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

8. 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

9. 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

10. 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

2019 Movement Disorders

11. Ultrasound as Diagnostic Tool for Diaphragmatic Myoclonus (PubMed)

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

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2016 Movement disorders clinical practice

12. 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

13. 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

2018 Korean journal of anesthesiology

14. 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

15. Electrophysiologic testing aids diagnosis and subtyping of myoclonus. (PubMed)

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

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2018 Neurology

16. Segmental Spinal Myoclonus Complicating Lumbar Transforaminal Epidural Steroid Injection. (PubMed)

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

17. Acute inability to mobilise resulting from probable donepezil-induced myoclonus. (PubMed)

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

18. Electro-clinical Characteristics and Prognostic Significance of Post Anoxic Myoclonus. (PubMed)

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

19. 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. (PubMed)

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

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2018 Medicine

20. 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

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