Assuntos
Distúrbios Distônicos/epidemiologia , Distúrbios Distônicos/genética , Distúrbios Distônicos/fisiopatologia , Sarcoglicanas/genética , Idade de Início , Erros de Diagnóstico , Seguimentos , Humanos , Indígenas Norte-Americanos/etnologia , Indígenas Norte-Americanos/genética , México/epidemiologia , LinhagemAssuntos
Hospitais Especializados , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/epidemiologia , Distúrbios Distônicos/terapia , Feminino , Honduras/epidemiologia , Hospitais Especializados/organização & administração , Hospitais Especializados/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/epidemiologia , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Doença de Parkinson/terapiaRESUMO
Background: Idiopathic focal dystonia is a motor syndrome associated with dysfunction of basal ganglia circuits. Observations have suggested that many other non-motor symptoms may also be part of the clinical picture. The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia. Methods: In a single-center cross-sectional case-control study, we evaluated the presence of pain, neuropsychiatric symptoms, and sleep alterations in 28 patients with blepharospasm, 28 patients with cervical dystonia, 24 patients with writer's cramp, and 80 control subjects matched for sex, age, and schooling. We obtained clinical and demographic data, and evaluated patients using the Fahn-Marsden Dystonia Rating Scale and other specific scales for dystonia. All subjects completed the following questionnaires: Beck Depression Inventory, Beck Anxiety Inventory, Social Phobia Inventory, Apathy Scale, Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Brief Pain Scale, and the World Health Organization Quality of Life brief scale. Results: The patients presented more symptoms of depression, anxiety, and apathy than the control subjects. They also reported worse quality of sleep and more pain complaints. Patients with blepharospasm were the most symptomatic subgroup. The patients had worse quality of life, and the presence of pain and symptoms of apathy and depression were the main influences for these findings, but not the severity of motor symptoms. Discussion: Patients with dystonia, especially those with blepharospasm, showed higher prevalence of symptoms of depression, anxiety, apathy, worse quality of sleep, and pain. These symptoms had a negative impact on their quality of life.
Assuntos
Blefarospasmo/epidemiologia , Distúrbios Distônicos/epidemiologia , Torcicolo/epidemiologia , Idoso , Ansiedade/epidemiologia , Apatia , Blefarospasmo/psicologia , Estudos de Casos e Controles , Estudos Transversais , Depressão/epidemiologia , Distúrbios Distônicos/psicologia , Feminino , Humanos , Masculino , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Dor/epidemiologia , Prevalência , Transtornos do Sono-Vigília/epidemiologia , Torcicolo/psicologiaRESUMO
ABSTRACT Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.
RESUMO A distonia é um distúrbio de movimento relativamente comum e alguns de seus aspectos epidemiológicos e clínicos ainda não foram bem caracterizados em pacientes brasileiros. Além disso, uma nova classificação clínica para o transtorno foi proposta e seu impacto na prática clínica não é claro. Nosso objetivo é descrever as características clínicas e demográficas de uma série brasileira de pacientes com distonia primária, estimar sua prevalência local e explorar o impacto do uso de uma nova classificação para distonia. Foram identificados 289 pacientes com distonia primária (PDYS) durante um período de 12 meses, dos quais 235 foram submetidos a uma avaliação detalhada. Os pacientes com PDYS corresponderam a um sexto de todos os pacientes avaliados no serviço em que o estudo foi realizado, com uma prevalência local estimada de 19,8/100.000 habitantes. As características clínicas e demográficas dos pacientes foram semelhantes àquelas descritas em outros locais, com o blefaroespasmo como distonia focal mais comum e a maioria dos pacientes apresentando truques sensoriais que julgaram úteis no dia-a-dia. A aplicação da nova classificação foi fácil e simples, e a abordagem sistemática permitiu uma melhor caracterização clínica de nossos pacientes. Reconhecemos duas síndromes distônicas que não foram descritas no artigo original que propôs a classificação e suspeitamos que a distinção arbitrária entre distonia generalizada e multifocal parece não ser útil para pacientes com PDYS. Em conclusão, a prevalência e as características clínicas de nossos pacientes não foram distintas de outras amostras e a nova classificação mostrou-se prática e útil para caracterizar pacientes com distonia.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Distúrbios Distônicos/classificação , Distúrbios Distônicos/epidemiologia , Blefarospasmo/epidemiologia , Brasil/epidemiologia , Prevalência , Estudos Transversais , Distúrbios Distônicos/diagnósticoRESUMO
Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.
Assuntos
Distúrbios Distônicos/classificação , Distúrbios Distônicos/epidemiologia , Adolescente , Adulto , Idoso , Blefarospasmo/epidemiologia , Brasil/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Distúrbios Distônicos/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto JovemRESUMO
OBJECTIVE: To determine characteristics, clinical significance, frequency, and mimics of restless legs syndrome (RLS) in a cohort of Wilson's disease (WD, n = 42/f = 18), compared to healthy, matched controls. MATERIALS AND METHODS: Structured clinical interviews (patients and caregiving family members), repeated neurological examinations (afternoon and presleep), comprehensive laboratory tests, WD-, RLS-, and sleep-specific rating scales, and video-polysomnography. RESULTS: Thirteen patients with WD (13/42 = 31.0%) clearly fulfilled the five diagnostic criteria of RLS; in eight patients (19.1%), the burden of RLS was clinically significant. The RLS was of moderate severity, equally distributed among sexes, manifested mainly in the evening and before falling asleep, and had developed mostly after clinical manifestation of WD (time elapsed 10.2 ± 14.5 years), still at a young mean age (27.5 ± 11.5 years). The known RLS-associated features were absent (normal iron and kidney parameters) or rare (positive family history, polyneuropathy). Compared to WD patients without RLS, patients with RLS were significantly elder and had suffered longer from WD. WD-specific RLS mimics as well as RLS confounding motor comorbidities (dystonia, tremor, chorea) were frequent and a diagnostic challenge; in difficult cases, the differentiation was reached by clinical observation of the motor behavior in the evening or at nighttime. CONCLUSION: RLS was frequent in this cohort of WD and might be causally related to WD. RLS should be included in the diagnostic work-up of WD. In complex motor disorders, differential diagnosis of RLS might require evening/nighttime examination and video-polysomnography. In WD patients with a clinically significant RLS, treatment with dopaminergic substances may be considered.
Assuntos
Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/epidemiologia , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/epidemiologia , Adolescente , Adulto , Estudos de Coortes , Comorbidade , Diagnóstico Diferencial , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico/métodos , Polissonografia/métodos , Sono/fisiologia , Tremor/diagnóstico , Tremor/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: A special group of focal dystonia is that known as occupational, which include dystonic disorders triggered by repetitive motor activity, closely associated with the professional activity of a specific task that the affected person performs. In this sense, musicians are a population particularly vulnerable to this disorder, which is presented during the execution of highly trained movements. OBJECTIVE: This article reviews the pathophysiology of focal dystonia and its therapeutic implications. DEVELOPMENT: The pathophysiological basis of focal dystonia in the musician is still not well established. However, due to the contribution of neurophysiological studies and functional neuroimaging, there is growing evidence of anomalies in the processing of sensory information, sensory-motor integration, cortical and subcortical inhibitory processes, which underline this disease. Clinically, it is characterised by the appearance of involuntary muscle contractions, and is associated with loss of motor control while practicing music. It is a gradual appearance and sometimes there may be a history of musculoskeletal injuries or non-physiological postures preceding the appearance of the symptoms. The neurological examination is usually normal, although subtle dystonic postures can develop spontaneously or with movements that involve the affected segments. The dystonia remains focal and is not generalised. CONCLUSIONS: Treatment is based on using multiple strategies for the management of the dystonia, with variable results. Although a specific therapy has not been defined, there are general principles that are combined in each situation looking for results. This includes, among others, pharmacological interventions, management with botulinum toxin, and sensory re-training techniques.
Assuntos
Distúrbios Distônicos/fisiopatologia , Dedos/fisiopatologia , Música , Doenças Profissionais/fisiopatologia , Antidiscinéticos/uso terapêutico , Toxinas Botulínicas/uso terapêutico , Distúrbios Distônicos/epidemiologia , Distúrbios Distônicos/etiologia , Distúrbios Distônicos/terapia , Ergonomia , Dedos/inervação , Humanos , Rede Nervosa/fisiopatologia , Doenças Profissionais/terapia , Reabilitação , Apoio SocialRESUMO
Tardive dystonia (TDt) is a severe side effect of long-term use of antipsychotics. Previous publications suggested that TDt persist but the results are distorted by referral bias. In a population-based nine-year follow-up study (one baseline, six follow-ups) of chronic psychiatric patients (N=194) on a Caribbean island, the course of prevalent and incident TDt was measured with the Fahn-Marsden rating scale. Of the 26 patients (mean age 53.3 yrs) with TDt at baseline, 64% recovered, 20% persisted, and in 16% the course was intermittent. The severity of baseline TDt was significantly higher in persistent cases versus those who recovered (t=3.01, P<0.008). Of the 27 incident cases (cumulative 9-year incidence: 16.1%; mean age 57.6 yrs), 80% recovered, 8% persisted, and in 12% the course was intermittent. Predominantly affected were hands, eyes (blepharospasm), neck and mouth. The natural course of TDt is better than previously suggested but severe cases tend to persist.