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1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782074

RESUMO

BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet in patients with alternating hemiplegia of childhood (AHC).METHODS: The clinical information of 13 patients with ATP1A3 mutations was analyzed by performing retrospective chart reviews. Patients with the AHC phenotype who consented to ketogenic diet were included in the trial.RESULTS: Ten patients presented with the clinical phenotype of AHC, two patients presented with rapid-onset dystonia parkinsonism, and one patient presented with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Two novel mutations of the AHC phenotype were identified: p.Ile363Thr and p.Asn743Ser. The clinical phenotypes of three mutations differed from those in previous reports: p.Arg597Pro, p.Thr769Pro, and p.Arg756Cys. One of the two patients who started a ketogenic diet experienced seizure provocation and so immediate stopped consuming the diet, while the other patient continued the ketogenic diet for 1 year, but this produced no clear benefit such as reduction of paroxysmal symptoms.CONCLUSIONS: Our study is the first case series of ATP1A3-related disorders to be described in Korea and which further expands the understanding of its genotype-phenotype spectrum. A ketogenic diet showed no clear benefit for the patients with AHC.


Assuntos
Ataxia Cerebelar , Dieta , Distonia , Deformidades do Pé , Perda Auditiva Neurossensorial , Hemiplegia , Humanos , Dieta Cetogênica , Coreia (Geográfico) , Atrofia Óptica , Transtornos Parkinsonianos , Fenótipo , Estudos Retrospectivos , Convulsões
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781307

RESUMO

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.


Assuntos
Criança , Distonia , Genética , Feminino , Humanos , Proteínas de Membrana , Genética , Mutação , Proteínas do Tecido Nervoso , Genética
3.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-763094

RESUMO

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.


Assuntos
Toxinas Botulínicas , Cerebelo , Distonia , Infarto , Acidente Vascular Cerebral , Língua
4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762639

RESUMO

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.


Assuntos
Baclofeno , Toxinas Botulínicas , Paralisia Cerebral , Estimulação Encefálica Profunda , Distonia , Distúrbios Distônicos , Globo Pálido , Mãos , Inquéritos Epidemiológicos , Humanos , Espasticidade Muscular , Qualidade de Vida , Escala Visual Analógica
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785413

RESUMO

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.


Assuntos
Adulto , Artérias , Deglutição , Transtornos de Deglutição , Diagnóstico Diferencial , Tratamento Farmacológico , Distonia , Eletromiografia , Feminino , Humanos , Manometria , Métodos , Saliva , Sialorreia , Acidente Vascular Cerebral
6.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765865

RESUMO

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.


Assuntos
Transtornos de Deglutição , Distonia , Epidemiologia , Humanos , Mortalidade , Transtornos dos Movimentos , Doença de Parkinson , Transtornos Parkinsonianos , Qualidade de Vida
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765849

RESUMO

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.


Assuntos
Toxinas Botulínicas , Estimulação Encefálica Profunda , Distonia , Seguimentos , Globo Pálido , Humanos
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765848

RESUMO

No abstract available.


Assuntos
Distonia
10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765846

RESUMO

No abstract available.


Assuntos
Distonia
11.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765833

RESUMO

No abstract available.


Assuntos
Distonia
12.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764383

RESUMO

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.


Assuntos
Obstrução das Vias Respiratórias , Anestesia , Anestesia Geral , Anestésicos , Transtornos Cognitivos , Distonia , Humanos , Máscaras Laríngeas , Pessoa de Meia-Idade , Doenças Neurodegenerativas , Propofol , Respiração , Insuficiência Respiratória , Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Língua , Ventilação
13.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-719384

RESUMO

No abstract available.


Assuntos
Distonia
14.
Yonsei Medical Journal ; : 1209-1215, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762062

RESUMO

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic–clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.


Assuntos
Apneia , Ataxia , Líquido Cefalorraquidiano , Criança , Vestuário , Cognição , Discinesias , Distonia , Diagnóstico Precoce , Epilepsia , Epilepsia Tipo Ausência , Feminino , Glucose , Humanos , Recém-Nascido , Dieta Cetogênica , Microcefalia , Transtornos dos Movimentos , Fenótipo , Qualidade de Vida , Estudos Retrospectivos , Convulsões
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-742212

RESUMO

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.


Assuntos
Sintomas Afetivos , Analgésicos , Antidepressivos , Antipsicóticos , Delusões , Dopamina , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Distonia , Alucinações , Histamina , Humanos , Transtornos dos Movimentos , Norepinefrina , Manejo da Dor , Prolactina , Agitação Psicomotora , Transtornos Psicóticos , Receptor 5-HT2A de Serotonina , Receptores de Neurotransmissores , Serotonina , Ganho de Peso
16.
Rev. Pesqui. Fisioter ; 8(4): 535-541, nov., 2018. tab
Artigo em Inglês, Português | LILACS (Américas) | ID: biblio-968826

RESUMO

INTRODUÇÃO: A Distonia Cervical (DC) é uma doença dos núcleos da base e tem como consequência movimentos hipercinéticos, sendo a mais comum entre as distonias focais. Além disso, pode ser definida pela presença de contrações involuntárias envolvendo a musculatura cervical. OBJETIVO: descrever o perfil funcional de pacientes com DC, oferecendo maior embasamento focado nas habilidades funcionais desses pacientes. MÉTODOS: Foi realizado um estudo transversal de pacientes atendidos no Ambulatório de Neurociências localizado no Ambulatório Professor Francisco Magalhães Neto, Salvador, Bahia, no período de novembro a dezembro de 2017. RESULTADOS: Foram analisados 6 pacientes: 3 do sexo feminino e 3 do sexo masculino. A maior parte dos pacientes apresentou os sintomas iniciais após algum trauma sofrido, baixo/moderado risco de queda, qualidade de vida (QV) impactada negativamente por limitações físicas, dependência leve e dor moderada. As principais queixas relacionadas à participação social estavam relacionadas a frequentar ambientes públicos, devido à vergonha que sentem por causa dos movimentos involuntários, além da impossibilidade de trabalhar proporcionada pela doença. CONCLUSÕES: O perfil funcional dos pacientes com DC ainda é escasso na literatura. Nesse estudo, a população com DC mostrou sofrer não só impactos na QV por fatores físicos, mas, sobretudo, por fatores emocionais e sociais. [AU]


INTRODUCTION: Cervical Dystonia (CD) is a disease of the nuclei of the base and results in hyperkinetic movements, being the most common amongst focal dystonias. In addition, it can be defined by the presence of involuntary contractions involving the cervical musculature. OBJECTIVE: To make known the functional profile of patients with CD, offering a more focused foundation on the functional abilities of these patients. METHODS: A cross-sectional study was carried out of patients attended at the Neuroscience Outpatient Clinic located in the Professor Francisco Magalhães Neto Ambulatory, Salvador, Bahia, from November to December 2017. RESULTS: Six patients were analyzed: 3 females and 3 males. Most patients presented initial symptoms after some trauma, low/moderate risk of falls, quality of life (LQ) negatively impacted by physical limitations, mild dependence and moderate pain. The main complaints related to social engagement were related to attending public places, due to the shame that they feel because of the involuntary movements, besides the impossibility of working caused by the pathology. CONCLUSIONS: The functional profile of patients with CD is still scarce in literature. In this study, the population with CD showed not only impacts on LQ due to physical factors, but, above all, by emotional and social factors, which makes a biopsychosocial approach indispensable to the assistance of these persons. [AU]


Assuntos
Distonia , Torcicolo
17.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-766721

RESUMO

Oculogyric crisis is an acute dystonia involving ocular muscles characterized by sustained conjugate upward or lateral deviation of the eyes. Metronidazole is a commonly used antimicrobial agent in treatment of anaerobic infections. However, its long-term use can cause toxic encephalopathy particularly in patients with hepatic dysfunction. Here, we describe a case of oculogyric crisis as a presenting manifestation of metronidazole-induced encephalopathy.


Assuntos
Encefalopatias , Distonia , Humanos , Metronidazol , Músculos , Síndromes Neurotóxicas
18.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765827

RESUMO

OBJECTIVE: The inability to propel a bolus of food successfully from the posterior part of the oral cavity to the oropharynx is defined as transfer dysphagia. The present case series describes the varied presentation of transfer dysphagia due to focal dystonia and highlights the importance of early detection by following up on strong suspicions. METHODS: We describe seven cases of transfer dysphagia due to focal dystonia. Transfer dysphagia as a form of focal dystonia may appear as the sole presenting complaint or may present with other forms of focal dystonia. RESULTS: Four out of seven patients had pure transfer dysphagia and had previously been treated for functional dysphagia. A high index of suspicion, barium swallow including videofluoroscopy, associated dystonia in other parts of the body and response to drug therapy with trihexyphenidyl/tetrabenazine helped to confirm the diagnosis. CONCLUSION: Awareness of these clinical presentations among neurologists and non-neurologists can facilitate an early diagnosis and prevent unnecessary investigations.


Assuntos
Bário , Transtornos de Deglutição , Diagnóstico , Tratamento Farmacológico , Distonia , Distúrbios Distônicos , Diagnóstico Precoce , Humanos , Boca , Orofaringe
19.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765819

RESUMO

OBJECTIVE: To report demographic data from a large cohort of patients with oromandibular dystonia (OMD). METHODS: This is a retrospective review of patients with OMD referred to our institution between 1989 and 2015. Demographic (age of onset, gender, and familial history of dystonia) and clinical (type of OMD, associated dystonia, and etiology of dystonia) data were collected from a cohort of 240 individuals. RESULTS: The mean age of onset of OMD was 51.6 years old, with a female predominance (2:1). A family history of dystonia was found in 6 patients (2.5%). One hundred and forty-nine patients (62.1%) had the jaw-opening type of OMD, 48 patients (20.0%) had the jaw-closing type, and 43 patients (17.9%) had a mixed form of OMD. Lingual dystonia was also present in 64 (26.7%) of these patients. Eighty-two patients (34.2%) had a focal dystonia, 131 patients (54.6%) had a segmental dystonia, and 27 patients (11.3%) had a generalized dystonia. One hundred and seventy-one patients (71.3%) had idiopathic OMD. CONCLUSION: OMD is a chronic and disabling focal dystonia. Our study found a prevalence of female patients, an onset in middle age and a predominantly idiopathic etiology. Unlike other studies, jaw-opening was found to be the most frequent clinical type of OMD.


Assuntos
Idade de Início , Estudos de Coortes , Demografia , Distonia , Distúrbios Distônicos , Feminino , Humanos , Pessoa de Meia-Idade , Transtornos dos Movimentos , Prevalência , Estudos Retrospectivos
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765811

RESUMO

OBJECTIVE: Motor impairments related to hand function are common symptoms in patients with movement disorders, such as Parkinson’s disease (PD) and focal hand dystonia (FHD). However, hand dysfunction has not been quantitatively assessed as a clinical tool for screening patient groups from healthy controls (HCs). The aim of our study was 1) to quantitatively assess hand dysfunction in patients with PD and FHD and its usefulness as a screening tool 2) to grade disease severity in PD and FHD based on hand dysfunction. METHODS: The current case-control study included HCs (n = 50) and patients with known history of PD (n = 25) or FHD (n = 16). Hand function was assessed by a precision grip task while participants lifted objects of 1.3 N and 1.7 N under dry skin conditions, followed by very wet skin conditions (VWSCs). Receiver operating characteristic and summative scoring analyses were performed. RESULTS: In PD, the combination of loading phase duration and lifting phase duration at quantitative cutoffs of 0.36 and 0.74 seconds identified 21/25 patients as diseased and 49/50 subjects as HCs with 1.7 N under VWSCs. In PD, 5/21 was graded as “mild” and 16/21 as “moderate cases.” In FHD, slip force at a cutoff of 1.2 N identified 13/16 patients as diseased and 41/50 subjects as HC with 1.7 N under VWSCs, but disease severity could not be graded. CONCLUSION: Our results demonstrate the use of precision grip task as an important clinical tool in assessment of hand dysfunction in movement disorder patients. Use of quantitative cutoffs may improve diagnostic accuracy and serve as a valuable adjunct to existing clinical assessment methods.


Assuntos
Estudos de Casos e Controles , Distonia , Força da Mão , Mãos , Humanos , Remoção , Programas de Rastreamento , Transtornos dos Movimentos , Doença de Parkinson , Curva ROC , Pele
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