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3.
Artigo em Inglês | MEDLINE | ID: mdl-38434714

RESUMO

Background: A wide variety of associated movement disorders has been described in multiple sclerosis. Phenomenology Shown: A 57-year-old woman with primary progressive multiple sclerosis developed spinal segmental myoclonus associated with focal myelitis. Educational Value: Movement disorders in multiple sclerosis are phenomenologically diverse and have varied pathophysiological mechanisms, making it essential to identify them to initiate appropriate treatment.


Assuntos
Transtornos dos Movimentos , Esclerose Múltipla Crônica Progressiva , Esclerose Múltipla , Mioclonia , Doenças da Medula Espinal , Feminino , Humanos , Pessoa de Meia-Idade , Mioclonia/tratamento farmacológico , Mioclonia/etiologia , Esclerose Múltipla/complicações , Esclerose Múltipla Crônica Progressiva/complicações , Esclerose Múltipla Crônica Progressiva/tratamento farmacológico
4.
Genes (Basel) ; 15(2)2024 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-38397161

RESUMO

The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-trivial portion of the complex epilepsy and myoclonus cases that are seen in tertiary care centers. The last decade has seen substantial progress in our understanding of the pathophysiology, diagnosis, prognosis, and, in select disorders, therapies of these diseases. In this scoping review, we examine English language publications from the past decade that address diagnostic, phenotypic, and therapeutic advances in all PMEs. We then highlight the major lessons that have been learned and point out avenues for future investigation that seem promising.


Assuntos
Epilepsias Mioclônicas Progressivas , Mioclonia , Humanos , Epilepsias Mioclônicas Progressivas/diagnóstico , Epilepsias Mioclônicas Progressivas/genética , Epilepsias Mioclônicas Progressivas/terapia
6.
Mov Disord Clin Pract ; 11(1): 76-85, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38291835

RESUMO

BACKGROUND: Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis. CASES: We describe three patients with heterozygous variants in DHDDS and five with variants affecting NUS1. They bear a remarkably similar phenotype of a movement disorder dominated by multifocal myoclonus. Diagnostic clues include myoclonus exacerbated by action and facial involvement, and slowly progressive or stable, gait ataxia with disproportionately impaired tandem gait. Myoclonus is confirmed with neurophysiology, including EMG of facial muscles. LITERATURE REVIEW: Ninety-eight reports of heterozygous variants in DHDDS, NUS1 and chromosome 6q22.1 structural alterations spanning NUS1, confirm the convergent phenotype of hypotonia at birth, developmental delay, multifocal myoclonus, ataxia, dystonia and later parkinsonism with or without generalized epilepsy. Other features include periodic exacerbations, stereotypies, anxiety, and dysmorphisms. Although their gene products contribute to dolichol biosynthesis, a key step in N-glycosylation, transferrin isoform profiles are typically normal. Imaging is normal or non-specific. CONCLUSIONS: Recognition of their shared phenotype may expedite diagnosis through chromosomal microarray and by including DHDDS/NUS1 in movement disorder gene panels.


Assuntos
Transtornos dos Movimentos , Mioclonia , Recém-Nascido , Humanos , Difosfatos , Fenótipo , Ataxia , Dolicóis/metabolismo , Receptores de Superfície Celular
8.
Laryngoscope ; 134(1): 397-399, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37161907

RESUMO

The work describes a case of palatal myoclonus with distressing tinnitus in a 9-year-old boy and its successful treatment with injections of botulinum toxin. This case report discusses common questions about myoclonic-induced clicking tinnitus and provides answers. Laryngoscope, 134:397-399, 2024.


Assuntos
Toxinas Botulínicas , Mioclonia , Zumbido , Masculino , Humanos , Criança , Zumbido/etiologia , Zumbido/tratamento farmacológico , Mioclonia/complicações , Mioclonia/diagnóstico , Toxinas Botulínicas/uso terapêutico , Palato Mole , Injeções/efeitos adversos , Músculos Palatinos
10.
Int J Toxicol ; 43(2): 123-133, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38063479

RESUMO

When conducting toxicology studies, the interpretation of drug-related neurological clinical signs such as convulsions, myoclonus/myoclonic jerks, tremors, ataxia, and salivation requires an understanding of the spontaneous incidence of those observations in commonly used laboratory animal species. The spontaneous incidence of central nervous system clinical signs in control animals from a single facility using cage-side observations or high definition video monitoring was retrospectively analyzed. Spontaneous convulsions were observed at low incidence in Beagle dogs and Sprague-Dawley rats but were not identified in cynomolgus monkeys and Göttingen minipigs. Spontaneous myoclonic jerks and muscle twitches were observed at low incidence in Beagle dogs, cynomolgus monkeys, and Sprague-Dawley rats but were not seen in Göttingen minipigs. Spontaneous ataxia/incoordination was identified in all species and generally with a higher incidence when using video monitoring. Salivation and tremors were the two most frequent spontaneous clinical signs and both were observed in all species. Data from the current study unveil potential limitations when using control data obtained from a single study for toxicology interpretation related to low incidence neurological clinical signs while providing historical control data from Beagle dogs, cynomolgus monkeys, Sprague-Dawley rats, and Göttingen minipigs.


Assuntos
Mioclonia , Ratos , Suínos , Animais , Cães , Ratos Sprague-Dawley , Porco Miniatura , Estudos Retrospectivos , Macaca fascicularis , Tremor/induzido quimicamente , Incidência , Convulsões , Ataxia
13.
Wien Med Wochenschr ; 174(1-2): 30-34, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37523107

RESUMO

BACKGROUND: In accordance with the rising number of SARS-CoV­2 infections, reports of neurological complications have also increased. They include cerebrovascular diseases but also immunological diseases such as Guillain-Barre syndrome (GBS), Miller-Fisher syndrome (MFS), and opsoclonus-myoclonus-ataxia syndrome (OMAS). While GBS and MFS are typical postinfectious complications, OMAS has only recently been described in the context of COVID-19. GBS, MFS, and OMAS can occur as para- and postinfectious, with different underlying pathomechanisms depending on the time of neurological symptom onset. The study aimed to describe clinical features, time between infection and onset of neurological symptoms, and outcome for these diseases. METHODS: All COVID-19 patients treated in the neurological ward between January 2020 and December 2022 were screened for GBS, MFS, and OMAS. The clinical features of all patients, with a particular focus on the time of onset of neurological symptoms, were analyzed. RESULTS: This case series included 12 patients (7 GBS, 2 MFS, 3 OMAS). All GBS and one MFS patient received immunomodulatory treatment. Three patients (2 GBS, 1 OMAS) had a severe COVID-19 infection and received mechanical ventilation. In patients with OMAS, only one patient received treatment with intravenous immunoglobulin and cortisone. The remaining two patients, both with disease onset concurrent with SARS-COV­2 infection, recovered swiftly without treatment. In all subgroups, patients with concurrent onset of neurological symptoms and COVID-19 infection showed a trend toward shorter disease duration. CONCLUSION: All patient groups displayed a shorter disease duration if the onset of neurological symptoms occurred shortly after the COVID-19 diagnosis. In particular, both the OMAS patients with symptom onset concurrent with COVID-19 showed only abortive symptoms followed by a swift recovery. This observation would suggest different pathomechanisms for immune-mediated diseases depending on the time of onset after an infection.


Assuntos
COVID-19 , Síndrome de Guillain-Barré , Síndrome de Miller Fisher , Mioclonia , Transtornos da Motilidade Ocular , Humanos , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Síndrome de Guillain-Barré/complicações , Estudos Retrospectivos , Teste para COVID-19 , Mioclonia/complicações , Transtornos da Motilidade Ocular/complicações , COVID-19/complicações , SARS-CoV-2 , Síndrome de Miller Fisher/diagnóstico , Síndrome de Miller Fisher/terapia , Síndrome de Miller Fisher/complicações , Ataxia/complicações
16.
J Clin Sleep Med ; 20(1): 183-184, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37772703

RESUMO

In this brief case report on paroxysmal sleep-related movements, we describe an adolescent patient's presentation of brief jerking movements during sleep and the accompanying differential diagnosis. In examining the patient's overnight electroencephalogram we use hallmark sleep architecture to provide reassurance to the patient and her family. CITATION: Silverman A, Miglis MG, Gallentine W. Images: Benign myoclonus of sleep associated with K-complexes on electroencephalography. J Clin Sleep Med. 2024;20(1):183-184.


Assuntos
Mioclonia , Feminino , Adolescente , Humanos , Mioclonia/complicações , Mioclonia/diagnóstico , Sono , Movimento , Eletroencefalografia , Diagnóstico Diferencial
17.
Pract Neurol ; 24(1): 41-44, 2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-37802651

RESUMO

A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity. Developmental history was normal. Examination identified cognitive impairment with action myoclonus. His clinical presentation raised suspicion of a progressive myoclonus epilepsy. MR scan of the brain showed white matter changes suggesting leucodystrophy with cortical atrophy. Electroencephalogram showed generalised epileptiform abnormalities with photoparoxysmal responses, including at low frequencies (1 Hz). Cortical hyperexcitability was confirmed with giant median somatosensory evoked potentials and long loop reflexes at rest. Multichannel electromyography showed action myoclonus with variable synchronous and asynchronous agonist and antagonist muscle activation with short-burst duration of 25-75 ms, and jerk-locked back-averaging showed premyoclonic potentials consistent with cortical myoclonus. Genetic sequencing identified a homozygous missense variant in the CLN6 gene (c.768C>G p.(Asp256Glu), confirming Kufs disease type A.


Assuntos
Epilepsias Mioclônicas Progressivas , Mioclonia , Lipofuscinoses Ceroides Neuronais , Masculino , Adulto , Humanos , Criança , Encéfalo , Eletroencefalografia , Convulsões , Eletromiografia , Proteínas de Membrana
18.
JBI Evid Synth ; 22(1): 66-89, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37560913

RESUMO

OBJECTIVE: The objective of this umbrella review was to examine various pharmacologic interventions for their potential to reduce etomidate-induced myoclonus. A secondary objective was to compare the relative effectiveness of those medications in reducing the incidence of myoclonus when etomidate is utilized for the induction of general anesthesia. INTRODUCTION: Etomidate is the drug of choice when inducing general anesthesia in hemodynamically unstable patients. However, its use is limited among the general surgical population due to its ability to cause adrenal suppression, vomiting, and myoclonus. Myoclonus can lead to damage of muscle fibers, myalgias, and patient discomfort, and can also be detrimental in patients with low cardiac reserve. Several systematic reviews have reported on the effectiveness of various intravenous medications in reducing mild, moderate, and severe myoclonus; however, a more thorough examination of their influence was lacking. INCLUSION CRITERIA: This review included systematic reviews and meta-analyses of randomized controlled trials involving the use of pharmacologic interventions to reduce etomidate-induced myoclonus. Reviews in English and conducted after 1965 were considered for inclusion. METHODS: A comprehensive search of 11 databases was conducted to identify published and unpublished reviews up to March 2022. Critical appraisal was conducted by 2 independent reviewers using the standardized JBI appraisal tool. Quantitative findings were summarized according to the dose, timing of administration, and relative risk using a data matrix, and were synthesized in tabular format with supporting narrative text. Results were organized by severity of myoclonus (overall, mild, moderate, and severe) and by type of intervention. RESULTS: Eight systematic reviews were included in this umbrella review, which included 48 relevant studies, after removal of duplicates (3909 participants included in the primary studies). Five of the systematic reviews examined the effectiveness of various types of opioids in the prevention of myoclonus, and 3 systematic reviews examined the effectiveness of non-opioid interventions, such as lidocaine, midazolam, and dexmedetomidine. Seven reviews searched at least 4 databases for pertinent studies and specifically indicated that blinded reviewers appraised the articles. All reviews used a published and validated appraisal instrument. The overall quality of all included reviews was judged to be moderate to high. The absolute risk reduction indicating the effectiveness of the prophylactic medications ranged from 47% to 81% for mild, 52% to 92% for moderate, and 61% to 96% for severe myoclonus. Opioids demonstrated the most consistent and substantial effect on the reduction in myoclonus. CONCLUSIONS: All pharmacologic interventions identified in this review demonstrated a statistically significant reduction in the incidence of myoclonus. Future studies and reviews should focus on elucidating the particular dose range and timing that is most effective. Anesthesia providers should consider a pre-treatment dose of one of the medications described in this umbrella review as a means to reduce myoclonus and the untoward effects of that condition.


Assuntos
Etomidato , Mioclonia , Humanos , Etomidato/efeitos adversos , Incidência , Mioclonia/induzido quimicamente , Mioclonia/epidemiologia , Mioclonia/prevenção & controle , Anestesia Geral/efeitos adversos , Lidocaína/efeitos adversos
20.
BMJ Case Rep ; 16(12)2023 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-38061853

RESUMO

Evaluation of rapidly progressive dementia (RPD) is usually challenging. In most cases, patients progress to dementia in weeks to months, and the differential diagnosis is broad. In this case, a woman in her 60s presented with a 1-month history of episodic vertigo, cognitive decline, ataxia and myoclonus. Cerebrospinal fluid total tau was markedly elevated, which was helpful in establishing the diagnosis and discussing prognosis/end-of-life measures with the patient's family. This case summarises a stepwise diagnostic approach for patients with RPD and highlights recent literature on biomarkers of Creutzfeldt-Jakob disease and autoimmune encephalitis.


Assuntos
Disfunção Cognitiva , Síndrome de Creutzfeldt-Jakob , Encefalite , Mioclonia , Feminino , Humanos , Síndrome de Creutzfeldt-Jakob/diagnóstico , Síndrome de Creutzfeldt-Jakob/líquido cefalorraquidiano , Encefalite/diagnóstico , Mioclonia/diagnóstico , Biomarcadores/líquido cefalorraquidiano , Disfunção Cognitiva/diagnóstico , Diagnóstico Diferencial
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