RESUMO
Background: Ataxia can be classified as genetic, sporadic or acquired. Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review. Results: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. Results: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. Conclusions: Considering the heterogeneity of patients with ataxia, we propose a method to approach them.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Ataxia/etiologia , Ataxia/epidemiologia , Ataxia/patologia , Chile/epidemiologia , Fatores Sexuais , Prontuários Médicos , Estudos Retrospectivos , Análise de Variância , Fatores Etários , Distribuição por Sexo , Distribuição por IdadeRESUMO
Huntington's disease (HD) is a rare neurodegenerative disease with a multitude of symptoms, which requires access to specialized multidisciplinary care for adequate management. The aim of this study was to survey the characteristics of care in various HD centers in South America (SA).
A questionnaire was sent to 24 centers involved in the care for HD patients in SA.
Of the total 24 centers, 19 (79.2%) are academic units. The majority of centers (62.5%) are general movement disorders clinics. Multidisciplinary care is available in 19 (79.2%) centers and in 20 (83.3%) care is provided free of charge. Genetic testing and counseling are available in 25 and 66.6% of centers, respectively. The majority of centers (83.3%) have no institutional support for end-stage care.
Although HD centers in SA are committed to providing multidisciplinary care, access to genetic counseling and end-stage care are lacking in most centers.
A doença de Huntington (DH) é uma doença neurodegenerativa rara que requer tratamento multidisciplinar especializado para manejo adequado. O objetivo do presente trabalho foi pesquisar as características da assistência à saúde em centros de DH na América do Sul (AS).
Um questionário foi enviado para 24 centros envolvidos no cuidado de pacientes com DH na AS.
Dos 24 centros, 19 (79,2%) são unidades acadêmicas. A maioria (62,5%) são clínicas de distúrbios dos movimentos. Cuidado multidisciplinar é disponível em 19 (79,2%) dos centros e em 20 (83,3%), o tratamento é gratuito. O teste e o aconselhamento genético estão disponíveis em 25 e 66,6% dos centros, respectivamente. Não há suporte institucional para cuidado terminal em 83,3% dos centros.
Apesar dos centros de DH na AS terem compromisso com o provimento de cuidados multidisciplinares, o acesso a aconselhamento genético e a tratamento na fase terminal são falhos na maioria dos centros.
Assuntos
Humanos , Assistência Integral à Saúde/estatística & dados numéricos , Atenção à Saúde/estatística & dados numéricos , Doença de Huntington/terapia , Aconselhamento Genético , Testes Genéticos , Assistência Centrada no Paciente/estatística & dados numéricos , América do Sul , Inquéritos e QuestionáriosRESUMO
Background: Parkinson disease (EPI) patients often require being assisted by others. These caregivers are exposed to a decrease in their quality of Ufe. Aim: To explore Parkinson disease patient features associated with a greater burden among their caregivers. Material ana Methods: Fifty one patients with Parkinson disease (aged 67 ± 12years, 29 men, with 8 ± 5years of disease) and their caregivers, were studied. Patients were assessed with the Unified Parkinson Disease Rating Scale III, the Hoehn & Yahr stage standardization, Parkinson s minimental test, the neurop-sychiatric inventory and the Beck Depression Inventory (IDB). The Zarit Burden Interview (ESZ) was applied to caregivers. Results: According to IDB, 45% of patients whose caregiverspresented little or no burden had a depression, compared to 78% of those whose caregivers had modérate or intense burden. (p < 0.01). The ESZ score of caregivers correlated significantly with Parkinson patients' age, IDB and axial involvement in the UPDRS-III (correlation coefficients ofOAp < 0.01, 0.6p < 0.01 and 0.46p < 0.01, respectively). Conclusions: Motor alterations, cognitive impairment and most importantly depression of patients with Parkinson disease are deteminants of burden for their caregivers.