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1.
S. Afr. j. child health (Online) ; 15(4): 229-231, 2021.
Article in English | AIM, AIM | ID: biblio-1354353

ABSTRACT

Neurological complications of COVID-19 or multisystem inflammatory syndrome in children (MIS-C) are well described. We report an unusual presentation in a 9-year-old girl presenting with status epilepticus, who thereafter developed choreoathetosis and dystonia. She was initially managed with intravenous immunoglobulins and methylprednisolone for presumed autoimmune encephalitis. However, she tested positive for SARS-CoV-2 and met the clinical and laboratory criteria for MIS-C. She remained encephalopathic with abnormal movements and dystonia for 8 days from presentation but was discharged home with complete clinical recovery after 2 weeks.


Subject(s)
Humans , Female , Child , Dystonia , COVID-19 , Lesch-Nyhan Syndrome , HIV Infections
2.
Frontiers of Medicine ; (4): 877-886, 2021.
Article in English | WPRIM | ID: wpr-922515

ABSTRACT

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%-80.7%) in relatives and 74.5% (95% CI 70.2%-78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.


Subject(s)
Dystonia , Epilepsy, Benign Neonatal/genetics , Humans , Membrane Proteins/genetics , Mutation , Nerve Tissue Proteins/genetics , Pedigree , Penetrance , Seizures/genetics
3.
Arq. neuropsiquiatr ; 78(9): 586-592, Sept. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131750

ABSTRACT

ABSTRACT Background: Dystonia is a heterogeneous disorder that, when refractory to medical treatment, may have a favorable response to deep brain stimulation (DBS). A practical way to have an overview of a research domain is through a bibliometric analysis, as it makes it more accessible for researchers and others outside the field to have an idea of its directions and needs. Objective: To analyze the 100 most cited articles in the use of DBS for dystonia treatment in the last 30 years. Methods: The research protocol was performed in June 2019 in Elsevier's Scopus database, by retrieving the most cited articles regarding DBS in dystonia. We analyzed authors, year of publication, country, affiliation, and targets of DBS. Results: Articles are mainly published in Movement Disorders (19%), Journal of Neurosurgery (9%), and Neurology (9%). European countries offer significant contributions (57% of our sample). France (192.5 citations/paper) and Germany (144.1 citations/paper) have the highest citation rates of all countries. The United States contributes with 31% of the articles, with 129.8 citations/paper. The publications are focused on General outcomes (46%), followed by Long-term outcomes (12.5%), and Complications (11%), and the leading type of dystonia researched is idiopathic or inherited, isolated, segmental or generalized dystonia, with 27% of articles and 204.3 citations/paper. Conclusions: DBS in dystonia research is mainly published in a handful of scientific journals and focused on the outcomes of the surgery in idiopathic or inherited, isolated, segmental or generalized dystonia, and with globus pallidus internus as the main DBS target.


RESUMO Introdução: A distonia é uma doença heterogênea que, quando refratária ao tratamento medicamentoso, pode ter uma resposta favorável à estimulação encefálica profunda (EEP). Uma forma prática de ter uma visão desta área de pesquisa é por meio de análise bibliométrica, pois permite aos pesquisadores e terceiros a terem uma ideia das tendências e necessidades da área. Objetivo: Analisar os 100 artigos mais citados no tratamento de distonia pelo uso de EEP nos últimos 30 anos. Métodos: O protocolo de pesquisa foi realizado em junho de 2019 através da base de dados Scopus da Elsevier, em que se obteve os artigos mais citados na área de tratamento de distonia com EEP. Analisaram-se variáveis como autores, ano de publicação, país, afiliação, e alvos de EEP. Resultados: Os artigos foram principalmente publicados principalmente na Movement Disorders (19%), no Journal of Neurosurgery (9%), e na Neurology (9%). Os países europeus oferecem contribuições significativas (57% da amostra). A França (192,5 citações/artigo) e a Alemanha (144,1 citações/artigo) possuem as mais altas taxas de citações dentre todos os países. Os Estados Unidos contribuem com 31% dos artigos da amostra (129,8 citações/artigo). As publicações focaram em Desfechos gerais (46%), seguido de Desfechos a longo prazo (12,5%), e Complicações (11%). O principal tipo de distonia pesquisado foi distonia generalizada ou segmentar, idiopática ou hereditária, isolada, abrangendo 27% dos artigos e 204,3 citações/artigo. Conclusões: A pesquisa de EEP em distonia é publicada em seletos periódicos científicos e foca nos desfechos da cirurgia, nas distonias generalizadas ou segmentares, idiopáticas ou hereditárias, isoladas, sendo o globus pallidus internus o principal alvo da EEP.


Subject(s)
Humans , Deep Brain Stimulation , Dystonia/therapy , Bibliometrics , Europe , France , Germany , Globus Pallidus
4.
Arq. neuropsiquiatr ; 78(8): 512-522, Aug. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131740

ABSTRACT

ABSTRACT Background: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. Objective: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. Methods: Non-systematic review of the literature published up to June 2019. Results: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. Conclusion: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.


RESUMO Introdução: Os estudos neurofisiológicos são métodos auxiliares para compreender melhor as características e a natureza dos distúrbios do movimento. A eletromiografia (EMG), em associação com o eletroencefalograma (EEG) e o acelerômetro, podem ser utilizados para avaliar um espectro de movimentos hipo e hipercinéticos. Técnicas específicas podem ser aplicadas para melhor caracterizar a fenomenologia, ajudar a distinguir a origem psicogênica da orgânica e avaliar o local mais provável de geração do movimento no sistema nervoso. Objetivo: Pretendemos fornecer ao clínico uma atualização sobre ferramentas neurofisiológicas úteis para avaliar distúrbios do movimento na prática clínica. Métodos: Revisão não sistemática da literatura publicada até junho de 2019. Resultados: Uma diversidade de protocolos foi encontrada e descrita. Dentre eles, inclui-se o uso de EMG para a definição do padrão de distonia, mioclonia, mioquimia, miorritmia e painfull legs moving toes, além do uso de EMG em associação ao acelerômetro para avaliar tremor e, em associação ao EEG para avaliar mioclonia. Ademais, técnicas para medida indireta de excitabilidade cortical e do tronco encefálico ajudam a descrever e diagnosticar a fisiologia anormal da doença de Parkinson, parkinsonismo atípico, distonia e mioclonia. Conclusão: Esses estudos podem ser úteis para o diagnóstico e geralmente são subutilizados na prática neurológica.


Subject(s)
Humans , Dystonia , Movement Disorders/diagnosis , Myoclonus/diagnosis , Tremor/diagnosis , Electroencephalography , Electromyography , Neurophysiology
5.
Rev. cir. traumatol. buco-maxilo-fac ; 20(1): 22-26, jan.-mar. 2020. ilus
Article in Portuguese | LILACS, BBO | ID: biblio-1253535

ABSTRACT

Introdução: A luxação da articulação temporomandibular ocorre quando a cabeça da mandíbula se movimenta para fora da fossa articular, fazendo com que a superfície posterior da cabeça da mandíbula fique à frente da eminência articular. Quando ocorrem episódios frequentes, essa condição é referida como luxação recidivante. Embora existam diferentes tratamentos, a eminectomia apresenta-se como uma opção cirúrgica com resultados satisfatórios e prognóstico favorável. Relato de caso: Este trabalho relata o caso de uma paciente com quadro severo de luxações recidivantes associadas à distonia muscular, tratada cirurgicamente por eminectomia. A paciente apresenta acompanhamento de 36 meses, estável, sem sintomatologia ou novos episódios de luxação. A abordagem multidisciplinar apresenta um alto índice de sucesso, e procedimentos cirúrgicos devem ser considerados quando procedimentos clínicos falham. Considerações finais: A eminectomia mostra bons resultados no tratamento da luxação recidivante de ATM, com chances mínimas de recidiva ou danos articulares. Após a cirurgia, os pacientes mostram uma boa função articular... (AU)


Introduction: Dislocation of the temporomandibular joint occurs when the jaw head moves out of the joint fossa causing the posterior surface of the jaw head to be ahead of the joint eminence. When they occur in frequent episodes, this condition is referred like relapsing dislocation. Although there are different treatments, eminectomy presents as a surgical option with satisfactory results and favorable prognosis. Case report: This paper reports the case of a patient with severe recurrent dislocations associated with muscular dystonia, treated through surgical treatment of eminectomy associated with a clinical treatment protocol. The patient has a 36-month followup, stable, without symptoms or new episodes of dislocation. The multidisciplinary approach has a high success rate and surgical procedures should be considered when clinical procedures fail. Final considerations: Eminectomy shows good results in the treatment of recurrent TMJ dislocation, with minimal chances of recurrence or joint damage. After surgery, patients show good joint function... (AU)


Subject(s)
Humans , Female , Adult , Recurrence , Temporomandibular Joint , Joint Dislocations , Dystonia , Jaw , Surgical Procedures, Operative , Joints , Mandible
6.
Med. UIS ; 33(1): 31-38, ene.-abr. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1124983

ABSTRACT

Resumen Introducción: el modafinilo es un fármaco neuroestimulante utilizado principalmente para promover estados de vigilia atención y disminuir la fatiga ante ciertos comportamientos que propician la somnolencia diurna excesiva. Objetivo: identificar en la literatura científica los efectos adversos neurológicos y cardiovasculares causados por el consumo del modafinilo. Materiales y Métodos: revisión bibliográfica de los artículos encontrados entre los meses de abril y julio de 2019 en las bases de datos PUBMED, SCOPUS, DIALNET. 51 artículos superaron la evaluación de calidad metodológica y se incluyeron en la revisión. Resultados: se identificaron que los principales efectos adversos a nivel cardiovascular son la cardiomiopatía Tako-Tsubo y la taquicardia ventricular polimórfica, mientras que a nivel neurológico puede generar insomnio y distonías. Conclusiones: El consumo del modafinilo genera repercusiones en las funciones cognitivas y cardiovasculares por lo cual no es aconsejable su uso a largo plazo en personas sanas. MÉD. UIS.2020;33(1):31-8.


Abstract Introduction: modafinil is a neurostimulant drug used mainly to promote wakefulness, attention and decrease fatigue in certain behaviors that cause excessive daytime sleepiness. Objective: identify in the scientific literature the neurological and cardiovascular adverse effects caused by the consumption of modafinil. Materials and Methods: bibliographic review of the articles found between the months of April and July of 2019 in the PUBMED, SCOPUS, DIALNET databases. 51 articles passed the methodological quality assessment and were included in the review. Results: the main adverse effects at the cardiovascular level were identified as Tako-Tsubo cardiomyopathy and polymorphic ventricular tachycardia, while at the neurological level it can generate insomnia and dystonia. Conclusions: the consumption of modafinil generates repercussions on cognitive and cardiovascular functions, so its long-term use in healthy people is not advisable. MÉD.UIS.2020;33(1):31-8.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Sleep Wake Disorders , Tachycardia, Ventricular , Modafinil , Tachycardia , Blood Pressure , Dystonia , Takotsubo Cardiomyopathy , Headache , Central Nervous System Stimulants , Sleep Initiation and Maintenance Disorders , Narcolepsy , Nausea
8.
Article in Chinese | WPRIM | ID: wpr-781307

ABSTRACT

OBJECTIVE@#To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.@*METHODS@#Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.@*RESULTS@#The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in exon 2 of the PRRT2 gene, which were both inherited from their mothers. Pooling together their frequencies in general population, genetic models, related literature and impact on protein function, the two novel variants were both predicted to be pathogenic.@*CONCLUSION@#The c.282dupA and c.715_716dupCC variants probably underlie the disease in the two children.


Subject(s)
Child , Dystonia , Genetics , Female , Humans , Membrane Proteins , Genetics , Mutation , Nerve Tissue Proteins , Genetics
10.
Article in English | WPRIM | ID: wpr-742212

ABSTRACT

Going back to basics prior to mentioning the use of antipsychotics in patients with pain, the International Association for the Study of Pain (IASP) definition of pain can be summarized as an unpleasant experience, composed of sensory experience caused by actual tissue damage and/or emotional experience caused by potential tissue damage. Less used than antidepressants, antipsychotics have also been used for treating this unpleasant experience as adjuvant analgesics without sufficient evidence from research. Because recently developed atypical antipsychotics reduce the adverse reactions of extrapyramidal symptoms, such as acute dystonia, pseudo-parkinsonism, akathisia, and tardive dyskinesia caused by typical antipsychotics, they are expected to be used more frequently in various painful conditions, while increasing the risk of metabolic syndromes (weight gain, diabetes, and dyslipidemia). Various antipsychotics have different neurotransmitter receptor affinities for dopamine (D), 5-hydroxytryptamine (5-HT), adrenergic (α), histamine (H), and muscarinic (M) receptors. Atypical antipsychotics antagonize transient, weak D₂ receptor bindings with strong binding to the 5-HT(2A) receptor, while typical antipsychotics block long-lasting, tight D₂ receptor binding. On the contrary, antidepressants in the field of pain management also block the reuptake of similar receptors, mainly on the 5-HT and, next, on the norepinephrine, but rarely on the D receptors. Antipsychotics have been used for treating positive symptoms, such as delusion, hallucination, disorganized thought and behavior, perception disturbance, and inappropriate emotion, rather than the negative, cognitive, and affective symptoms of psychosis. Therefore, an antipsychotic may be prescribed in pain patients with positive symptoms of psychosis during or after controlling all sensory components.


Subject(s)
Affective Symptoms , Analgesics , Antidepressive Agents , Antipsychotic Agents , Delusions , Dopamine , Drug-Related Side Effects and Adverse Reactions , Dystonia , Hallucinations , Histamine , Humans , Movement Disorders , Norepinephrine , Pain Management , Prolactin , Psychomotor Agitation , Psychotic Disorders , Receptor, Serotonin, 5-HT2A , Receptors, Neurotransmitter , Serotonin , Weight Gain
11.
Article in English | WPRIM | ID: wpr-785413

ABSTRACT

A 43-year-old woman suffered from drooling and dysphagia after a stroke in the left posterior inferior cerebellar artery territory. Videofluoroscopic swallowing study showed compatible findings of cricopharyngeal dysphagia. Despite the injection of botulinum neurotoxin, no symptom improvement was achieved and pharyngeal dystonia was considered as the cause. Medications for dystonia dramatically helped with saliva control and resulted in a small improvement in the progression of food from the pharyngeal to esophageal phase. After adjusting the drug dose, the patient was able to perform social activities without drooling. Moreover, she could consume food orally; however, this was limited to small amounts of liquid, and the main method of nutrition support was via an orogastric tube. Therefore, we suggest that physicians should make a differential diagnosis of combined dystonia in patients complaining of dysphagia by esophageal manometry and electromyography.


Subject(s)
Adult , Arteries , Deglutition , Deglutition Disorders , Diagnosis, Differential , Drug Therapy , Dystonia , Electromyography , Female , Humans , Manometry , Methods , Saliva , Sialorrhea , Stroke
12.
Article in English | WPRIM | ID: wpr-764383

ABSTRACT

Corticobasal degeneration (CBD) is a rare neurodegenerative disease characterized by dystonia, cognitive deficits, and an asymmetric akinetic-rigid syndrome. Little information is available regarding anesthetic management for CBD patients. Our patient was a 55-year-old man with CBD complicated by central sleep apnea (CSA). Due to the risk of perioperative breathing instability associated with anesthetic use, a laryngeal mask airway was used during anesthesia with propofol. Spontaneous respiration was stable under general anesthesia. However, respiratory depression occurred following surgery, necessitating insertion of a nasopharyngeal airway. Since no respiratory depression had occurred during maintenance of the airway using the laryngeal mask, we suspected an upper airway obstruction caused by displacement of the tongue due to residual propofol. Residual anesthetics may cause postoperative respiratory depression in patients with CBD. Therefore, continuous postoperative monitoring of SpO₂ and preparations to support postoperative ventilation are necessary.


Subject(s)
Airway Obstruction , Anesthesia , Anesthesia, General , Anesthetics , Cognition Disorders , Dystonia , Humans , Laryngeal Masks , Middle Aged , Neurodegenerative Diseases , Propofol , Respiration , Respiratory Insufficiency , Sleep Apnea Syndromes , Sleep Apnea, Central , Tongue , Ventilation
13.
Article in English | WPRIM | ID: wpr-763094

ABSTRACT

Lingual dystonia is a rare type of dystonia, the main symptom of which varies from intermittent to sustained tongue fixation. Several studies have suggested that the cerebellum may be implicated in dystonia. There are several treatment options available for dystonia, including medication, botulinum toxin injection, and surgical intervention. We chose to inject botulinum toxin into the styloglossus muscle, and the symptoms of the lingual dystonia were improved. We report a case of lingual dystonia following a bilateral cerebellar stroke that responded to treatment with botulinum toxin.


Subject(s)
Botulinum Toxins , Cerebellum , Dystonia , Infarction , Stroke , Tongue
14.
Article in English | WPRIM | ID: wpr-765865

ABSTRACT

Oro-pharyngeal dysphagia is a common symptom in patients with Parkinson's disease (PD) and related disorders, even in their early stage of diseases. Dysphagia in these patients has been underdiagnosed, probably due to poor the self-awareness of the conditions and the underuse of validated tools and objective instruments for assessment. The early detection and intervention of dysphagia are closely related to improving the quality of life and decreasing the mortality rate in these patients. The purpose of this paper is to give an overview of the characteristics of dysphagia, including the epidemiology, pathophysiology, and clinical symptomatology, in patients with PD compared with other parkinsonian disorders and movement disorders. The management of dysphagia and future research directions related to these disorders are also discussed.


Subject(s)
Deglutition Disorders , Dystonia , Epidemiology , Humans , Mortality , Movement Disorders , Parkinson Disease , Parkinsonian Disorders , Quality of Life
16.
Article in English | WPRIM | ID: wpr-765849

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation. METHODS: We provide the first report of a dystonia patient with a genetically confirmed GNAL mutation in the Korean population and reviewed the literature on patients with the GNAL mutation who underwent GPi-DBS. We compared the effectiveness of DBS in patients with the GNAL mutation compared to that in patients with DYT1 and DYT6 in a previous study. RESULTS: Patients with the GNAL mutation and those with DYT1 had higher early responder rates (GNAL, 5/5, 100%; DYT1, 7/7, 100%) than did patients with DYT6 (p = 0.047). The responder rates at late follow-up did not differ statistically among the three groups (p = 0.278). The decrease in the dystonia motor scale score in the GNAL group was 46.9% at early follow-up and 63.4% at late follow-up. CONCLUSION: GPi-DBS would be an effective treatment option for dystonia patients with the GNAL mutation who are resistant to medication or botulinum toxin treatment.


Subject(s)
Botulinum Toxins , Deep Brain Stimulation , Dystonia , Follow-Up Studies , Globus Pallidus , Humans
17.
Article in English | WPRIM | ID: wpr-765848

ABSTRACT

No abstract available.


Subject(s)
Dystonia
18.
Article in English | WPRIM | ID: wpr-765846

ABSTRACT

No abstract available.


Subject(s)
Dystonia
19.
Article in English | WPRIM | ID: wpr-765833

ABSTRACT

No abstract available.


Subject(s)
Dystonia
20.
Article in English | WPRIM | ID: wpr-762639

ABSTRACT

Deep brain stimulation (DBS) in internal globus pallidus is considered to be a good option for controlling generalized dystonia in patients with this condition. In this relation, it is known that DBS has already been shown to have significant effects on primary dystonia, but is seen as controversial in secondary dystonia including cerebral palsy (CP). On the other hand, intrathecal baclofen (ITB) has been known to reduce spasticity and dystonia in patients who did not respond to oral medications or botulinum toxin treatment. Here, we report a patient with dystonic CP, who received the ITB pump implantation long after the DBS and who noted remarkable improvement in the 36-Item Short Form Health Survey, Dystonia Rating Scale, Modified Barthel Index, and visual analog scale scores for pain after an ITB pump implantation was used as compared with DBS. To our knowledge, the present case report is the first to demonstrate the effects of an ITB pump on reducing pain and dystonia and improving quality of life and satisfaction, compared with DBS in a patient with CP.


Subject(s)
Baclofen , Botulinum Toxins , Cerebral Palsy , Deep Brain Stimulation , Dystonia , Dystonic Disorders , Globus Pallidus , Hand , Health Surveys , Humans , Muscle Spasticity , Quality of Life , Visual Analog Scale
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