RESUMEN
Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.
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Degeneraciones Espinocerebelosas/diagnóstico , Degeneraciones Espinocerebelosas/epidemiología , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/epidemiología , Adolescente , Adulto , Anciano , Brasil/epidemiología , Estudios Transversales , Trastornos de Deglución/epidemiología , Trastornos de Deglución/fisiopatología , Mareo/epidemiología , Mareo/fisiopatología , Disartria/epidemiología , Disartria/fisiopatología , Femenino , Trastornos Neurológicos de la Marcha/epidemiología , Trastornos Neurológicos de la Marcha/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Mutación , Nistagmo Patológico/epidemiología , Nistagmo Patológico/fisiopatología , Reacción en Cadena de la Polimerasa , Prevalencia , Estudios Retrospectivos , Distribución por Sexo , Degeneraciones Espinocerebelosas/genética , Degeneraciones Espinocerebelosas/fisiopatología , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/fisiopatología , Pruebas de Función Vestibular/métodos , Adulto JovenRESUMEN
ABSTRACT Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.
RESUMO Objetivo Descrever e comparar os achados vestibulares mais evidentes entre a ataxia hereditária, bem como correlacionar seus aspectos clínicos com o estudo das estruturas nervosas afetadas nesta doença. Métodos 75 pacientes foram avaliados e submetidos aos seguintes procedimentos: anamnese, avaliação otorrinolaringológica e vestibular. Resultados Clinicamente, os pacientes apresentaram sintomas de distúrbios da marcha (67,1%), tonturas (47,3%), disartria (46%) e disfagia (36,8%). No teste vestibular, as alterações foram predominantemente evidentes no teste calórico (79%), dismetria sacádicas (51%) e no teste rotatório (47%). A presença de alterações ocorreu em 87% dos pacientes. A maioria das alterações observadas foram da disfunção vestibular central (69,3%). Conclusão O estudo ressalta a importância da contribuição da avaliação labiríntica no topodiagnóstico para doenças neurodegenerativas, uma vez que, na maioria dos casos, os sintomas iniciais são otoneurológicos, e essas avaliações também devem ser incluídas na seleção de procedimentos a serem realizados no monitoramento clínico e terapêutico.
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Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Degeneraciones Espinocerebelosas/diagnóstico , Degeneraciones Espinocerebelosas/epidemiología , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/epidemiología , Pruebas de Función Vestibular/métodos , Brasil/epidemiología , Trastornos de Deglución/fisiopatología , Trastornos de Deglución/epidemiología , Degeneraciones Espinocerebelosas/fisiopatología , Degeneraciones Espinocerebelosas/genética , Nistagmo Patológico/fisiopatología , Nistagmo Patológico/epidemiología , Reacción en Cadena de la Polimerasa , Prevalencia , Estudios Transversales , Estudios Retrospectivos , Distribución por Sexo , Trastornos Neurológicos de la Marcha/fisiopatología , Trastornos Neurológicos de la Marcha/epidemiología , Mareo/fisiopatología , Mareo/epidemiología , Disartria/fisiopatología , Disartria/epidemiología , MutaciónRESUMEN
BACKGROUND: Fampridine is a broad-spectrum voltage-dependent potassium channel blocker that enhances synaptic transmission. The drug has been shown to be able to ameliorate conduction in demyelinated axons, thereby leading to improved gait in patients with multiple sclerosis (MS). OBJECTIVE: To assess the "real-life" efficacy and safety of fampridine prescribed for gait disorders in MS. This was an observational and prospective study carried out at MS Units participating in the Brazilian Multiple Sclerosis Study Group. METHODS: Patients with MS and gait disorders were prescribed fampridine (10âmg twice a day), irrespectively of the degree of disability determined by MS. Neurological disability determined by MS was assessed with the expanded disability scale score (EDSS). Outcomes for efficacy and safety of the drug were evaluated by the 25 foot-walk test and by the adverse events of fampridine. RESULTS: The time taken to walk 25 feet decreased by 20% or more in 62 patients (70%). Twenty-five patients were considered to be non-responders to this treatment. Improvement in walking speed was independent of improvement of disability. Mild or moderate adverse events were reported in 8% of patients. CONCLUSION: Fampridine is an efficient and safe therapeutic option for patients with MS and gait disorders.
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4-Aminopiridina/uso terapéutico , Trastornos Neurológicos de la Marcha/diagnóstico , Trastornos Neurológicos de la Marcha/tratamiento farmacológico , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/tratamiento farmacológico , Bloqueadores de los Canales de Potasio/uso terapéutico , 4-Aminopiridina/farmacología , Adulto , Anciano , Femenino , Trastornos Neurológicos de la Marcha/epidemiología , Humanos , Acontecimientos que Cambian la Vida , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/epidemiología , Bloqueadores de los Canales de Potasio/farmacología , Estudios ProspectivosRESUMEN
BACKGROUND: Predictors of falls in people with Parkinson's disease (PD) who have not previously fallen are yet to be identified. OBJECTIVES: We aimed to identify predictors of all falls and recurrent falls in people with PD who had not fallen in the previous year and to explore the timing of falls in a 12-month follow-up period. METHODS: Participants with PD (nâ=â130) were assessed by disease-specific, self-report and balance measures. Falls were recorded prospectively for 12 months. Univariate and multivariate analyses were performed. Kaplan-Meier survival analysis was used to investigate time to falling. RESULTS: Forty participants (31%) had ≥1 fall during follow-up and 21 (16%) had ≥2 falls. Disability, reduced balance confidence and greater concern about falling were associated with ≥1 fall in univariate analyses. Additionally, PD duration and severity, freezing of gait and impaired balance were associated with ≥2 falls (pâ< â0.05). Disability (Schwab and England scale, Odds Ratio [OR]â=â0.56 per 10 points increase; 95% confidence interval [CI] 0.39-0.80; pâ=â0.002) was associated with ≥1 fall in the final multivariate model (area under the receiver operating characteristic curve [AUC]â=â0.65; 95% CI 0.55-0.76; pâ=â0.005). Disability (Unified Parkinson's Disease Rating Scale activities of daily living, ORâ=â1.20; 95% CI 1.07-1.34; pâ=â0.001) and levodopa equivalent dose (ORâ=â1.11 per 100âmg increase; 95% CI 0.95-1.30; pâ=â0.19) were associated with ≥2 falls in the final multivariate model (AUCâ=â0.72; 95% CI 0.60-0.84; pâ=â0.001). Recurrent fallers experienced their first fall earlier than single fallers (pâ< â0.05). CONCLUSIONS: Self-reported disability was the strongest single predictor of all falls and recurrent falls.
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Accidentes por Caídas/estadística & datos numéricos , Trastornos Neurológicos de la Marcha/epidemiología , Enfermedad de Parkinson/epidemiología , Equilibrio Postural , Índice de Severidad de la Enfermedad , Actividades Cotidianas , Anciano , Femenino , Estudios de Seguimiento , Trastornos Neurológicos de la Marcha/etiología , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Pronóstico , Factores de Riesgo , Análisis de SupervivenciaRESUMEN
BACKGROUND: Low bone mineral density (BMD) and falls are common problems encountered in the postmenopausal women. The purpose was to evaluate the association between postural balance and BMD in postmenopausal women and its relation to risk for falls. METHODS: In this cross-sectional study, 225 women in amenorrhea > 12 months and age ≥ 45 years were included and divided, according to BMD, in T-score values > -2.0 SD (n = 140) and ≤ -2 SD (n = 85). Those with neurological or musculoskeletal disorders, history of vestibulopathies, uncorrected visual deficit or drug use that could affect balance were excluded. History of falls (last 24 months), clinical and anthropometric characteristics were evaluated. Postural balance was assessed by stabilometry (force platform). For statistical analysis were used Wilcoxon's Test, Chi-Square Test and logistic regression method for fall risk (Odds Ratio-OR). RESULTS: Patients with BMD > -2.0 SD were younger, with shorter time since menopause, and showed higher BMI as compared to those with low BMD (≤ -2 SD) (p < 0.05). It was observed that 57.8% of the participants reported fall episodes without significant difference distribution between the groups (p = 0.055). No differences were found from the comparison between the groups (p > 0.05) for stabilometric parameters. Risk for falls increased with age (OR 1.07; CI 95% 1.01-1.13), current smoking (OR 2.19; CI 95% 1.22-3.21) and corrected visual deficit (OR 9.06; CI 95% 1.14-4.09). In contrast, hormone therapy (HT) use was significantly associated with reduced risk for falls (OR 0.48; CI 95% 0.26-0.88). CONCLUSIONS: In postmenopausal women, BMD did not show association with postural balance or risk for falls. Age, smoking and corrected visual deficit were clinical indicators of risk for falls whereas HT use showed to be a protective factor.
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Accidentes por Caídas/mortalidad , Densidad Ósea/fisiología , Trastornos Neurológicos de la Marcha/diagnóstico , Trastornos Neurológicos de la Marcha/fisiopatología , Osteoporosis Posmenopáusica/fisiopatología , Equilibrio Postural/fisiología , Comorbilidad/tendencias , Estudios Transversales , Femenino , Trastornos Neurológicos de la Marcha/epidemiología , Humanos , Persona de Mediana Edad , Osteoporosis Posmenopáusica/epidemiologíaRESUMEN
Metachromatic leukodystrophy (MLD) is a lysosomal disorder caused by arylsulfatase A (ARSA) deficiency. It is classified into three forms according to the age of onset of symptoms (late infantile, juvenile, and adult). We carried out a cross-sectional and retrospective study, which aimed to determine the epidemiological, clinical, and biochemical profile of MLD patients from a national reference center for Inborn Errors of Metabolism in Brazil. Twenty-nine patients (male, 17) agreed to participate in the study (late infantile form: 22; juvenile form: 4; adult form: 1; asymptomatic: 2). Mean ages at onset of symptoms and at biochemical diagnosis were, respectively, 19 and 39 months for late infantile form and 84.7 and 161.2 months for juvenile form. The most frequently reported first clinical symptom/sign of the disease was gait disturbance and other motor abnormalities (72.7%) for late infantile form and behavioral and cognitive alterations (50%) for juvenile form. Leukocyte ARSA activity level did not present significant correlation with the age of onset of symptoms (r = -0.09, p = 0.67). Occipital white matter and basal nuclei abnormalities were not found in patients with the late infantile MLD. Our results suggest that there is a considerable delay between the age of onset of signs and symptoms and the diagnosis of MLD in Brazil. Correlation between ARSA activity and MLD clinical form was not found. Further studies on the epidemiology and natural history of this disease with larger samples are needed, especially now when specific treatments should be available in the near future.