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Otolaryngology--head and Neck Surgery :... May 2012Middle ear myoclonus is a rare condition with distinct characteristics at presentation. Diagnosis is based primarily on history, clinical examination, and... (Review)
Review
OBJECTIVE
Middle ear myoclonus is a rare condition with distinct characteristics at presentation. Diagnosis is based primarily on history, clinical examination, and long-time-based tympanometry. No consensus exists regarding treatment at present. This review was designed to identify relevant studies on current investigation and management.
DATA SOURCE
A systematic electronic literature search of MEDLINE, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Cochrane Trials register, and Web of Science was conducted for articles describing middle ear myoclonus through to May 2011. English- and non-English-language articles that focused on investigation and treatment were considered for review.
REVIEW METHOD
Two authors independently reviewed the articles for study design, treatment, intervention, and outcome. Data from human and experimental studies were considered.
RESULTS
A total of 21 articles were identified for this review. Most studies were found to be case reports or small case series. In general, there was no evidence of a conclusive diagnostic test or treatment for middle ear myoclonus.
CONCLUSION
There is a need for high-quality prospective controlled trials to determine the most effective management of middle ear myoclonus. The authors describe a treatment algorithm based on the data available and clinical knowledge.
Topics: Diagnosis, Differential; Disease Management; Ear, Middle; Humans; Myoclonus
PubMed: 22261497
DOI: 10.1177/0194599811434504 -
Tremor and Other Hyperkinetic Movements... 2018Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical... (Review)
Review
BACKGROUND
Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings.
METHODS
We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria.
RESULTS
Phenotypic differences across pedigrees exist, possibly related to underlying genetic differences. A "benign" phenotype has been described in several Japanese families and pedigrees linked to 8q (FCMTE1). French patients (5p linkage; FCMTE3) exhibit more severe progression, and in Japanese/Chinese pedigrees (with unknown linkage) anticipation has been suggested. Preferred treatment is with valproate (mind teratogenicity), levetiracetam, and/or clonazepam. Several genes have been identified, which differ in potential pathogenicity.
DISCUSSION
Based on the core features (above), the syndrome can be considered a distinct clinical entity. Clinical features may also include proximal myoclonus and mild progression with aging. Valproate or levetiracetam, with or without clonazepam, reduces symptoms. FCMTE is a heterogeneous disorder, and likely to include a variety of different conditions with mutations of different genes. Distinct phenotypic traits might reflect different genetic mutations. Genes involved in Purkinje cell outgrowth or those encoding for ion channels or neurotransmitters seem good candidate genes.
Topics: Epilepsies, Myoclonic; Humans; Phenotype
PubMed: 29416935
DOI: 10.7916/D85155WJ -
PloS One 2024Juvenile Myoclonic Epilepsy (JME) is a prevalent form of epileptic disorder, specifically categorized within the realm of Genetic Generalized Epilepsy (GGE). Its... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Juvenile Myoclonic Epilepsy (JME) is a prevalent form of epileptic disorder, specifically categorized within the realm of Genetic Generalized Epilepsy (GGE). Its hallmark features encompass unprovoked bilateral myoclonus and tonic-clonic seizures that manifest during adolescence. While most JME patients respond favorably to anti-seizure medication (ASM), a subset experiences refractory JME, a condition where seizures persist despite rigorous ASM treatment, often termed "Drug-Resistant Epilepsy" (DRE). This systematic review and meta-analysis aims to determine the prevalence of refractory JME, and further to identify socio-demographic, electrophysiological and clinical risk factors associated with its occurrence. Pinpointing these factors is crucial as it offers the potential to predict ASM responsiveness, enabling early interventions and tailored care strategies for patients.
MATERIAL AND METHODS
The systematic review and meta-analysis followed the Cochrane Handbook and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The study evaluated outcomes post ASM treatment in JME cohorts by searching papers published up to September 2023 in PubMed/MEDLINE, Scopus, and Google Scholar databases. Predefined inclusion criteria were met by 25 eligible studies, forming the basis for analysis.
RESULTS
A total of 22 potential risk factors for refractory JME were documented. Notably, robust risk factors for treatment resistance included Psychiatric Disorder (Odds Ratio (OR), 3.42 [2.54, 4.61] (95% Confidence Inverval (Cl)), Febrile Seizures (OR, 1.83 [1.14, 2.96] (95% Cl)), Alcohol Consumption (OR, 16.86 [1.94, 146.88] (95%Cl)), Aura (OR, 2.15 [1.04, 4.47] (95%Cl)), childhood absence epilepsy (CAE) evolving into JME (OR, 4.54 [1.61, 12.78] (95%CI)), occurrence of three seizure types (OR, 2.96 [1.96, 4.46] (95%CI)), and Focal EEG abnormalities (OR, 1.85 [1.13, 3.01] (95%Cl)). In addition, there were some non-significant risk factors for DRE because of noticeable heterogeneity.
CONCLUSION
In aggregate, over 36% of JME patients demonstrated drug resistance, with seven significant risk factors closely linked to this refractoriness. The interplay between these factors and whether they denote treatment non-response or heightened disease burden remains an open question and more studies would be required to fully examine their influence.
Topics: Adolescent; Humans; Child; Myoclonic Epilepsy, Juvenile; Epilepsy, Absence; Seizures; Drug Resistant Epilepsy; Risk Factors; Electroencephalography; Anticonvulsants
PubMed: 38593118
DOI: 10.1371/journal.pone.0300930 -
Developmental Medicine and Child... Dec 2011The cognitive and psychiatric aspects of adult movement disorders are well established, but specific behavioural profiles for paediatric movement disorders have not been... (Review)
Review
AIM
The cognitive and psychiatric aspects of adult movement disorders are well established, but specific behavioural profiles for paediatric movement disorders have not been delineated. Knowledge of non-motor phenotypes may guide treatment and determine which symptoms are suggestive of a specific movement disorder and which indicate medication effects.
METHOD
The goal of this review is to outline the known cognitive and psychiatric symptoms associated with paediatric movement disorders. We used a systematic approach, via PubMed, and reviewed over 400 abstracts of studies of selected disorders, of which 88 papers reporting paediatric non-motor symptoms are summarized.
RESULTS
Obsessive-compulsive disorder was manifest in children with paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections and Sydenham chorea. Children with opsoclonus-myoclonus syndrome had, for the most part, cognitive and behavioural problems, and attention-deficit-hyperactivity disorder was reported as a major comorbidity in Tourette syndrome, stereotypies, and restless legs syndrome. Symptoms of depression and anxiety were more frequent in individuals with idiopathic dystonia. Affective disorders were suggestive of Wilson disease. Cognitive decline was common in children with juvenile Huntington disease. A limitation of this review was the lack of systematic assessment in paediatric movement disorders for evaluation and uniform definitions.
INTERPRETATION
Although the literature in non-motor phenomena is still emerging, recognition of salient cognitive and psychiatric phenomena may facilitate management of paediatric movement disorders.
Topics: Child, Preschool; Comorbidity; Humans; Movement Disorders; Phenotype
PubMed: 21950517
DOI: 10.1111/j.1469-8749.2011.04134.x -
Translational Cancer Research Oct 2022Neuroblastoma is the most common malignancy in children younger than seven years of age and is the most frequent extracranial solid tumor that occurs in childhood. While...
BACKGROUND
Neuroblastoma is the most common malignancy in children younger than seven years of age and is the most frequent extracranial solid tumor that occurs in childhood. While opsoclonus-myoclonus syndrome (OMS), a paraneoplastic neurologic syndrome, affects 2-3% of children with neuroblastoma, and the percentage of mediastinal localization of the tumor is 49%. The objective of this study was to identify and characterize features of the OMS syndrome and treatments of mediastinal and non-mediastinal neuroblastoma associated with OMS.
METHODS
A systematic review of the literature was performed using PubMed, Medline, Web of Science, Embase and Cochrane. The search has no limit on date with the last search done on Dec 31, 2020. There is no publication restrictions or study design filters applied in the search.
RESULTS
Fifty-five out of 242 papers were identified and met our study eligibility. There were 77 cases found (28 cases had Mediastinal neuroblastoma, and 49 cases had non-mediastinal neuroblastoma). Data from trials showed that cases with mediastinal neuroblastoma who seemed to have undergone less treatment for OMS [rate ratio (RR) 0.41 (95% CI: 0.22-0.76)] had resulted in decreasing persistent neurologic symptoms [RR 0.31 (95% CI: 0.10-0.96)].
CONCLUSIONS
Children who have OMS and mediastinal neuroblastoma may be associated with more favorable clinical and biological characteristics and better outcomes than children who have OMS and non-mediastinal neuroblastoma, and they are more likely to present with a single neurological symptom at first. The OMS in mediastinal neuroblastoma might also be treated effectively through resection of the tumor followed by appropriate radiotherapy and chemotherapy, and no long-term treatments of OMS is indicated.
PubMed: 36388023
DOI: 10.21037/tcr-22-1120 -
Movement Disorders : Official Journal... Dec 2012Cerebrotendinous xanthomatosis (CTX) is an inherited neurometabolic disorder. The main neurological manifestations of the disease are pyramidal syndrome, ataxia,... (Review)
Review
BACKGROUND
Cerebrotendinous xanthomatosis (CTX) is an inherited neurometabolic disorder. The main neurological manifestations of the disease are pyramidal syndrome, ataxia, peripheral neuropathy, cognitive impairment, epilepsy, and psychiatric disturbances. Myoclonic dystonia has been reported on in the setting of various neurometabolic diseases. Anecdotal reports describe movement disorders associated with CTX, but no dystonia with myoclonic events.
METHODS
We collected clinical, biochemical, electrophysiological, neuroradiological, and genetic data of 6 patients with myoclonus and mild dystonia associated with CTX. From a systematic literature review, we analyzed 31 patients with movement disorders secondary to CTX.
RESULTS
Our 6 patients presented distal myoclonus with mild dystonia of the upper limbs. Myoclonus was of subcortical origin, based on neurophysiological recordings, and differed from oromandibular myoclonus previously described in CTX patients.
CONCLUSIONS
These results expand the phenotype of CTX and suggest that myoclonus and/or dystonia are underdiagnosed. In keeping with our findings, tremors previously observed in CTX patients might actually correspond to myoclonic events. We hypothesize that a dysfunction of the dentate nuclei-basal ganglia pathway may be involved.
Topics: Adolescent; Age of Onset; Cognition Disorders; Dystonia; Epilepsy; Female; Humans; Male; Myoclonus; Xanthomatosis, Cerebrotendinous
PubMed: 23115103
DOI: 10.1002/mds.25206 -
Journal of Neurology, Neurosurgery, and... Aug 2011To perform a systematic review of cases reported in the literature in which a peripheral trauma preceded the onset of a movement disorder (MD). (Review)
Review
OBJECTIVE
To perform a systematic review of cases reported in the literature in which a peripheral trauma preceded the onset of a movement disorder (MD).
METHODS
Two reviewers independently searched Medline and EMBASE. Data regarding patient characteristics, type of MD and type of injury were collected, as well as information on the spread of MD, predisposing factors, psychological characteristics, presence of nerve lesions and treatment.
RESULTS
133 publications presenting findings on 713 patients with peripherally induced movement disorders (PIMDs) were included. MDs were more frequent in women. The most commonly reported PIMD was fixed dystonia, which was often associated with pain and sensory abnormalities of the affected body part. In 26% of patients, a nerve injury was identified. More than one-third of patients had complex regional pain syndrome; these patients were younger, had a shorter interval before developing MDs and more often showed spread of MD to other body parts. Nearly 15% were diagnosed with a psychogenic movement disorder (PMD). PMD was associated with higher frequencies of fixed dystonia and tremor. In general, response to various treatments, including botulinum toxin administrations, was disappointing.
CONCLUSIONS
While there is overlap in clinical characteristics between PIMDs and PMDs, the current review indicates that there are many well documented organic cases of PIMDs. This suggests that MDs, such as dystonia, tremor, myoclonus and tics, may under certain circumstances (e.g., nerve lesions or genetic predisposition) be triggered by peripheral trauma. Potential mechanisms that may explain the underlying pathophysiology are addressed.
Topics: Female; Humans; Male; Movement Disorders; Peripheral Nerve Injuries; Peripheral Nervous System Diseases; Wounds and Injuries
PubMed: 21493756
DOI: 10.1136/jnnp.2010.232504 -
Surgical Laparoscopy, Endoscopy &... Feb 2017Etomidate and propofol played an important role in the sedation of patients undergoing gastrointestinal endoscopy. We conducted a systematic review and meta-analysis to... (Comparative Study)
Comparative Study Meta-Analysis Review
INTRODUCTION
Etomidate and propofol played an important role in the sedation of patients undergoing gastrointestinal endoscopy. We conducted a systematic review and meta-analysis to compare their efficacy and safety.
MATERIALS AND METHODS
PubMed, EMbase, Web of science, EBSCO, and Cochrane library databases were systematically searched. Randomized controlled trials assessing the effect of etomidate versus propofol for the anesthesia of patients undergoing gastrointestinal endoscopy were included. Two investigators independently searched articles, extracted data, and assessed the quality of included studies. The primary outcomes were anesthesia duration and recovery time. Meta-analysis was performed using random-effect model.
RESULTS
Six randomized controlled trials involving 1115 patients were included in the meta-analysis. Overall, compared with propofol, etomidate resulted in comparable anesthesia duration [standard mean difference (Std. MD)=-0.03; 95% confidence interval (CI), -0.16 to 0.10; P=0.66], recovery time (Std. MD=0.25; 95% CI, -0.42 to 0.92; P=0.47), mean arterial pressure at intubation (Std. MD=0.44; 95% CI, -0.26 to 1.15; P=0.21), heart pulse at intubation (Std. MD=0.93; 95% CI, -0.69 to 2.55; P=0.26), SPO2 at intubation (Std. MD=-0.52; 95% CI, -1.04 to 0.01; P=0.05), patient satisfaction [odds risk (OR)=0.42; 95% CI, 0.11-1.66; P=0.22], hypotension (OR=0.14; 95% CI, 0.02-1.22; P=0.07), changes of heart rate (OR=0.97; 95% CI, 0.61-1.53; P=0.88), nausea-vomiting (OR=2.02; 95% CI, 0.73-5.57; P=0.17), and the reduction in apnea or hyoxemia (OR=0.39; 95% CI, 0.24-0.64; P=0.0002), and injection pain (OR=0.03; 95% CI, 0.01-0.08; P<0.00001), but the increase in myoclonus (OR=8.54; 95% CI, 3.14-23.20; P<0.0001).
CONCLUSIONS
Between etomidate and propofol, no significant difference was revealed regarding anesthesia duration, recovery time, mean arterial pressure at intubation, heart pulse at intubation, SPO2 at intubation, patient satisfaction, hypotension, changes of heart rate and nausea-vomiting. Compared with propofol, etomidate showed reduced apnea or hyoxemia, and injection pain, but with an increased myoclonus.
Topics: Anesthesia Recovery Period; Anesthetics, Intravenous; Apnea; Arterial Pressure; Colonoscopy; Endoscopy, Gastrointestinal; Etomidate; Gastroscopy; Heart Rate; Humans; Hypotension; Hypoxia; Myoclonus; Pain; Patient Satisfaction; Postoperative Nausea and Vomiting; Propofol; Randomized Controlled Trials as Topic
PubMed: 28079763
DOI: 10.1097/SLE.0000000000000373 -
Movement Disorders : Official Journal... Aug 2011Mutations in the maternally imprinted epsilon-sarcoglycan gene occur in 30%-50% of myoclonus-dystonia cases. Psychiatric symptoms, particularly obsessive-compulsive... (Review)
Review
BACKGROUND
Mutations in the maternally imprinted epsilon-sarcoglycan gene occur in 30%-50% of myoclonus-dystonia cases. Psychiatric symptoms, particularly obsessive-compulsive disorder, have been described in some patients.
METHODS
We systematically reviewed 22 reports of psychiatric symptoms in myoclonus-dystonia, dividing individuals according to clinical and mutation status.
RESULTS
Clinically manifesting mutation carriers demonstrated an excess of psychiatric disorders compared with nonmutation carriers (P < .001). No differences were seen between non-motor-manifesting carriers and nonmutation carriers with the exception of alcohol excess/dependence, higher in non-motor-manifesting carriers.
CONCLUSIONS
The results confirm the association of epsilon-sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects.
Topics: Dystonic Disorders; Genetic Predisposition to Disease; Humans; Mental Disorders; Mutation; Sarcoglycans
PubMed: 21713999
DOI: 10.1002/mds.23791 -
International Journal of Molecular... Dec 2022Genetic Creutzfeldt-Jakob disease (gCJD) is a subtype of genetic prion diseases (gPrDs) caused by the accumulation of mutated pathological prion proteins (PrP). gCJD has... (Review)
Review
Genetic Creutzfeldt-Jakob disease (gCJD) is a subtype of genetic prion diseases (gPrDs) caused by the accumulation of mutated pathological prion proteins (PrP). gCJD has a phenotypic similarity with sporadic CJD (sCJD). In Japan, gCJD with a Val to Ile substitution at codon 180 (V180I-gCJD) is the most frequent gPrD, while the mutation is extremely rare in countries other than Japan and Korea. In this article, we aim to review previously elucidated clinical and biochemical features of V180I-gCJD, expecting to advance the understanding of this unique subtype in gCJD. Compared to classical sCJD, specific clinical features of V180I-gCJD include older age at onset, a relatively slow progression of dementia, and a lower positivity for developing myoclonus, cerebellar, pyramidal signs, and visual disturbance. Diffuse edematous ribboning hyperintensity of the cerebral cortex, without occipital lobes in diffusion-weighted magnetic resonance imaging, is also specific. Laboratory data reveal the low positivity of PrP in the cerebrospinal fluid and periodic sharp wave complexes on an electroencephalogram. Most patients with V180I-gCJD have been reported to have no family history, probably due to the older age at onset, and clinical and biochemical features indicate the specific phenotype associated with the prion protein gene mutation.
Topics: Humans; Creutzfeldt-Jakob Syndrome; Prion Proteins; Prions; Codon; Mutation
PubMed: 36499498
DOI: 10.3390/ijms232315172