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Arquivos Brasileiros de Oftalmologia Mar 2023Opsoclonus-myoclonus syndrome is extremely uncommon in adults with an autoimmune pathophysiology. Because of the rarity of the syndrome, international recognition of...
PURPOSE
Opsoclonus-myoclonus syndrome is extremely uncommon in adults with an autoimmune pathophysiology. Because of the rarity of the syndrome, international recognition of opsoclonus-myoclonus-ataxia syndrome needs to be improved urgently. Therefore, the goal of this study was to raise the awareness of the opsoclonus-myoclonus-ataxia syndrome and help doctors in better diagnosing and using immunotherapy.
METHODS
We present a case study of an adult-onset case of idiopathic opsoclonus-myoclonus syndrome characterized by spontaneous arrhythmic multidirectional conjugate eye movements, myoclonus, ataxia, sleep disorders, and intense fear. Additionally, we conduct a literature search and summarize the pathophysiology, clinical presentation, diagnosis, and treatment of opsoclonus-myoclonus-ataxia syndrome.
RESULTS
Immunotherapies successfully treated the patient's opsoclonus, myoclonus, and ataxia. Further, the article also includes an update summary of the opsoclonus-myoclonus-ataxia syndrome.
CONCLUSION
The prevalence of residual sequela in adults with opsoclonus-myoclonus-ataxia syndrome is low. Early diagnosis and treatment may result in a better prognosis. Furthermore, combined immunotherapy is expected to reduce the incidence of refractory and reoccurring opsoclonus-myoclonus-ataxia syndrome.
PubMed: 36995813
DOI: 10.5935/0004-2749.2022-0024 -
Epileptic Disorders : International... Oct 2023Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular... (Review)
Review
Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).
Topics: Humans; Literacy; Myoclonic Epilepsies, Progressive; Unverricht-Lundborg Syndrome; Myoclonus; Ataxia
PubMed: 37616028
DOI: 10.1002/epd2.20152 -
Epilepsia Open Apr 2024Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or... (Review)
Review
Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) or the location of the generator (i.e., neurophysiological classification); particularly, knowing the anatomical source of myoclonus gives inputs on the observable clinical patterns, such as EMG bursts duration or EEG correlate, and guides the therapeutic choices. Among all the chronic disorders, myoclonus often presents itself as a manifestation of epilepsy. In this context, myoclonus has many facets. Myoclonus occurs as one, or the only, seizure manifestation while it can also present as a peculiar type of movement disorder; moreover, its electroclinical features within specific genetically determined epileptic syndromes have seldom been investigated. In this review, following a meeting of recognized experts, we provide an up-to-date overview of the neurophysiology and nosology surrounding myoclonus. Through the dedicated exploration of epileptic syndromes, coupled with pragmatic guidance, we aim to furnish clinicians and researchers alike with practical advice for heightened diagnostic management and refined treatment strategies. PLAIN LANGUAGE SUMMARY: In this work, we described myoclonus, a movement characterized by brief, shock-like jerks. Myoclonus could be present in different diseases and its correct diagnosis helps treatment.
Topics: Humans; Myoclonus; Diagnosis, Differential; Movement Disorders; Epilepsy; Epileptic Syndromes
PubMed: 38334331
DOI: 10.1002/epi4.12917 -
Tremor and Other Hyperkinetic Movements... 2015Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the...
BACKGROUND
Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.
CASE REPORT
We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous truncating mutation, c.5908C>T (p.Q1970*) in exon 38 of the ATM gene, which has been previously reported as a founder mutation in the Costa Rican population.
DISCUSSION
Myoclonus can be a predominant or presenting feature in AT, even without dystonia.
PubMed: 25793145
DOI: 10.7916/D88P5Z9X -
Cureus Aug 2021Myoclonus is a sudden, involuntary jerking of a muscle or a group of muscles. Myoclonus may present in form of a pattern or, sporadically and infrequently. It is...
Myoclonus is a sudden, involuntary jerking of a muscle or a group of muscles. Myoclonus may present in form of a pattern or, sporadically and infrequently. It is usually associated with neurological disorders such as epilepsy, multiple sclerosis or infections, and tumors of the central nervous system. Myoclonus is not commonly known to be caused by tramadol. We present a case of a 59-year-old male who developed myoclonus in the muscles of his trunk, 10 days after initiating tramadol for chronic pain. The myoclonus disappeared after withholding the medication. The purpose of this case report is to make clinicians aware of a rare reversible side effect from the use of tramadol.
PubMed: 34646604
DOI: 10.7759/cureus.17547 -
Journal of Postgraduate Medicine 2016Asterixis is a type of negative myoclonus characterized by irregular lapses of posture of various body parts. It is an uncommon but important sign in clinical neurology.... (Review)
Review
Asterixis is a type of negative myoclonus characterized by irregular lapses of posture of various body parts. It is an uncommon but important sign in clinical neurology. Initially described as a "liver flap," its utility encompasses a galaxy of neurological and nonneurological situations. Asterixis has a rich history. Despite being described over 70 years ago, its exact pathogenesis remains unknown. Its significance as a tool for the evaluation and prognosis of encephalopathies has been suggested. This review presents its history, clinical implications and its significance.
Topics: Brain; Dyskinesias; Humans; Movement Disorders; Myoclonus
PubMed: 27089111
DOI: 10.4103/0022-3859.180572 -
Neurology. Clinical Practice Jun 2018It is unknown whether postanoxic cortical and subcortical myoclonus are distinct entities with different prognoses. (Review)
Review
BACKGROUND
It is unknown whether postanoxic cortical and subcortical myoclonus are distinct entities with different prognoses.
METHODS
In this retrospective cohort study of 604 adult survivors of cardiac arrest over 8.5 years, we identified 111 (18%) patients with myoclonus. Basic demographics and clinical characteristics of myoclonus were collected. EEG reports, and, when available, raw video EEG, were reviewed, and all findings adjudicated by 3 authors blinded to outcomes. Myoclonus was classified as cortical if there was a preceding, time-locked electrographic correlate and otherwise as subcortical. Outcome at discharge was determined using Cerebral Performance Category.
RESULTS
Patients with myoclonus had longer arrests with less favorable characteristics compared to patients without myoclonus. Cortical myoclonus occurred twice as often as subcortical myoclonus (59% vs 23%, respectively). Clinical characteristics during hospitalization did not distinguish the two. Rates of electrographic seizures were higher in patients with cortical myoclonus (43%, vs 8% with subcortical). Survival to discharge was worse for patients with myoclonus compared to those without (26% vs 39%, respectively), but did not differ between subcortical and cortical myoclonus (24% and 26%, respectively). Patients with cortical myoclonus were more likely to be discharged in a comatose state than those with subcortical myoclonus (82% vs 33%, respectively). Among survivors, good functional outcome at discharge was equally possible between those with cortical and subcortical myoclonus (12% and 16%, respectively).
CONCLUSIONS
Cortical and subcortical myoclonus are seen in every sixth patient with cardiac arrest and cannot be distinguished using clinical criteria. Either condition may have good functional outcomes.
PubMed: 30105165
DOI: 10.1212/CPJ.0000000000000466 -
Tremor and Other Hyperkinetic Movements... 2019Movement disorders of respiration are rare and are restricted to a phase of the respiratory cycle.
BACKGROUND
Movement disorders of respiration are rare and are restricted to a phase of the respiratory cycle.
PHENOMENOLOGY SHOWN
The intermittent inspiratory myoclonus in this patient with post-anoxic encephalopathy is likely to be of brainstem origin.
EDUCATIONAL VALUE
Rare movement disorders can be identified even in remote areas of the world where access to neurological care is limited.
Topics: Aged; Diagnosis, Differential; Fatal Outcome; Humans; Male; Myoclonus; Respiration
PubMed: 30809420
DOI: 10.7916/3qs5-cv76 -
Tremor and Other Hyperkinetic Movements... Oct 2020Patients with essential tremor, vocal tremor, torticollis, myoclonus-dystonia and posthypoxic myoclonus often benefit in a surprisingly rapid and robust manner from... (Review)
Review
Patients with essential tremor, vocal tremor, torticollis, myoclonus-dystonia and posthypoxic myoclonus often benefit in a surprisingly rapid and robust manner from ingestion of a modest amount of alcohol (ethanol). Despite considerable investigation, the mechanism of ethanol's ability to produce this effect remains a mystery. In this paper, we review the pharmacology of ethanol and its analogue GHB (or sodium oxybate), summarize the published literature of alcohol-responsive hyperkinetic movement disorders, and demonstrate videos of patients we have treated over the last fifteen years with either an ethanol challenge or with chronic sodium oxybate therapy. We then propose a novel explanation for this phenomenon-namely, that ingestion of doses of ethanol (or sodium oxybate) normalizes the aberrant motor networks underling these disorders. We propose that alcohol and its analogues improve clinical symptoms and their physiologic correlate by restoring the normal firing pattern of the major outflow pathways of the cerebellum (the Purkinje cells and deep cerebellar nuclei), We present evidence to support this hypothesis in animal models and in affected patients, and suggest future investigations to test this model.
Topics: Adjuvants, Anesthesia; Alcoholic Beverages; Animals; Behavior, Animal; Central Nervous System Depressants; Cerebellar Nuclei; Dystonic Disorders; Essential Tremor; Ethanol; Humans; Hypoxia, Brain; Movement Disorders; Myoclonus; Neural Pathways; Purkinje Cells; Sodium Oxybate; Torticollis; Voice Disorders
PubMed: 33178485
DOI: 10.5334/tohm.560 -
Developmental Medicine and Child... Dec 2021Aicardi-Goutières syndrome (AGS) is a rare genetic neuroinflammatory disorder caused by abnormal upregulation of type 1 interferon signalling. Opsoclonus-myoclonus...
Aicardi-Goutières syndrome (AGS) is a rare genetic neuroinflammatory disorder caused by abnormal upregulation of type 1 interferon signalling. Opsoclonus-myoclonus syndrome is a rare autoimmune phenotype demonstrating a disturbance in the humoral immune response mostly seen in the context of paraneoplastic or postinfectious states, although its pathophysiology is incompletely understood. We report the first three children described with AGS demonstrating transient opsoclonus and myoclonus after irritability and/or developmental regression, suggesting a pathological association. We describe the presentation, clinical features, progress, cerebrospinal fluid (CSF) inflammatory markers, electroencephalogram (EEG), and magnetic resonance imaging (MRI) findings in these children. Two patients had developmental regression but demonstrated a positive response to JAK1/2 inhibition clinically and on serial examination of CSF inflammatory markers. These findings suggest that AGS should be considered in children presenting with opsoclonus-myoclonus, and that the association between AGS and opsoclonus-myoclonus further supports the role of immune dysregulation as causal in the rare neurological phenomenon opsoclonus and myoclonus. What this paper adds There is a phenotypic association between opsoclonus-myoclonus syndrome and Aicardi-Goutières syndrome. There is clinical evidence of immune dysregulation in the pathogenesis of opsoclonus and myoclonus.
Topics: Autoimmune Diseases of the Nervous System; Biomarkers; Brain; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Neopterin; Nervous System Malformations; Opsoclonus-Myoclonus Syndrome; White Matter
PubMed: 34155623
DOI: 10.1111/dmcn.14969