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1.
Rev. Finlay ; 11(3): 243-254, 2021. tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1347047

ABSTRACT

RESUMEN Fundamento: la ataxia espinocerebelosa tipo 2 es una enfermedad genética con un patrón de herencia autosómico dominante. Constituye un problema de salud para Cuba, especialmente para la provincia Holguín, que concentra la población enferma y en riesgo más grande que se haya reportado a nivel mundial hasta el momento. Objetivo: caracterizar desde el punto de vista clínico y cognitivo a pacientes con ataxia espinocerebelosa tipo 2 diagnosticados durante los años 2018 y 2019. Métodos: se realizó un estudio retrospectivo a 28 pacientes con ataxia espinocerebelosa tipo 2 diagnosticados en la Clínica para la Investigación y Rehabilitación de las Ataxias Hereditarias de Holguín que permitieron además correlacionarlas en el tiempo. La muestra quedó conformada por 28 pacientes en estadio ligero de la enfermedad a los cuales se les aplicó la Escala para la Evaluación y Calificación de la Ataxia y la Escala de la Evaluación Cognitiva de Montreal para evaluar la progresión de la enfermedad desde el punto de vista clínico y cognitivo respectivamente con un año de diferencia entre los dos muestreos. Resultados: la edad media de los pacientes fue de 50,3 años con ligero predominio del sexo femenino, el tiempo de evolución promedio fue de 9,82 años resultando mayor para el sexo femenino. La edad media de inicio de la enfermedad fue de 39,54 años. Conclusiones: entre las dos evaluaciones existió una progresión de las manifestaciones cerebelosas y se evidenció un deterioro de las funciones cognitivas, dándole por este estudio un importante papel al cerebelo en ambas funciones.


ABSTRACT Background: spinocerebellar ataxia type 2 is a genetic disease with an autosomal dominant inheritance pattern. It constitutes a health problem for Cuba, especially for the Holguín province, which concentrates the largest sick and at-risk population that has been reported worldwide so far. Objective: to characterize from the clinical and cognitive point of view patients with spinocerebellar ataxia type 2 diagnosed during the years 2018 and 2019. Methods: a retrospective study was carried out in 28 patients with type 2 spinocerebellar ataxia diagnosed at the Holguín Clinic for Research and Rehabilitation of Hereditary Ataxias, which also allowed them to be correlated over time. The sample consisted of 28 patients with a mild stage of the disease to which the Scale for the Assessment and Rating of Ataxia and Montreal Cognitive Assessment Scale were applied to evaluate the progression of the disease from the clinical and cognitive point of view, respectively, with a difference of one year between the two samplings. Results: the mean age of the patients was 50.3 years with a slight predominance of the female sex, the average evolution time was 9.82 years, being longer for the female sex. The mean age of the disease start was 39.54 years. Conclusions: between the two evaluations there was a progression of cerebellar manifestations and a deterioration of cognitive functions was evidenced, giving an important role to the cerebellum in both functions by this study.

2.
Neurologia ; 32(7): 469-475, 2017 Sep.
Article in English, Spanish | MEDLINE | ID: mdl-26304656

ABSTRACT

INTRODUCTION: Information on achieving presymptomatic diagnosis of spinocerebellar ataxia (SCA) is limited. The advent of molecular diagnosis makes it possible to identify the carriers of different diseases and has also introduced the prospect of detecting diseases even before their onset. This has drawn attention to the ethical implications that must be considered in these subjects with a view to preserving their physical and psychological well-being. DEVELOPMENT: SCA is composed of a group of neurodegenerative disorders with autosomal dominant inheritance. Only a few publications have described the genetic counselling processes and guidelines to be followed during the process of presymptomatic diagnosis (PSD). The size of the multidisciplinary teams, their areas of expertise, and the number of counselling sessions are different for each of the studies analysed here. However, the basis of presymptomatic diagnosis originates in common guidelines to which members of our team have contributed recently. CONCLUSION: Presymptomatic diagnosis should be performed according to guidelines that safeguard the subjects' welfare. The diagnostic process is only recommended for patients over 18 years old with symptoms suggesting SCA, and a minimum risk of 50%. Genetic counselling programmes must be available in all centres that offer presymptomatic diagnosis of SCA.


Subject(s)
Asymptomatic Diseases , Genetic Counseling/ethics , Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/genetics , Humans
3.
Neurologia ; 32(3): 143-151, 2017 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-26541695

ABSTRACT

INTRODUCTION: The progressive deterioration of patients with spinocerebellar ataxia (SCA) has a major impact on their health-related quality of life (HRQOL). This study evaluates HRQOL in a sample of patients diagnosed with SCA and aims to estimate the predictive ability of a set of sociodemographic variables for the different dimensions of the General Health Questionnaire. METHODS: A total of 80 patients diagnosed with SCA were assessed using a sociodemographic questionnaire and the SF-36 General Health Questionnaire. The sociodemographic variables studied were sex, age, presence of a carer, employment status, and time elapsed from diagnosis of the disease. RESULTS: The 8 subscales of the SF-36 show positive and significant correlations to one another. Mean scores obtained on each SF-36 subscale differ between women and men, although this difference is significant only on the general health subscale, with men scoring higher than women. We found significant age differences on the vitality and social function subscales, with higher scores among younger patients (< 34 years). The variable 'presence of a carer' accounts for most of the total variance of the questionnaire. CONCLUSIONS: The SF-36 is a valid and useful instrument for evaluating HRQOL in patients diagnosed with SCA. Presence of a carer seems to be a determinant of self-perceived quality of life in these patients.


Subject(s)
Quality of Life/psychology , Spinocerebellar Ataxias/psychology , Surveys and Questionnaires , Adult , Age Factors , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Sex Factors
4.
Arch. méd. Camaguey ; 20(3): 322-329, mayo.-jun. 2016.
Article in Spanish | LILACS | ID: lil-787228

ABSTRACT

Fundamento: la ataxia espinocerebelosa tipo 2 es una enfermedad producida por el incremento del número de repeticiones del trinucleótido compuesto por el codón adenina, citocina y guanina, en la región codificable del gen ATNX2, localizada en el brazo largo del cromosoma 12. Se caracteriza por un síndrome cerebeloso progresivo asociado al enlentecimiento de los movimientos oculares sacádicos, neuropatía periférica, trastornos del sueño y en algunos casos manifestaciones de parkinsonismo. El síndrome de Ehlers-Danlos está dado por la hiperlaxitud de las articulaciones, lo que las hace inestables. La mutación de los genes involucrados en su génesis altera la estructura, producción o procesamiento de colágeno, lo que provoca alteraciones en la estructura y resistencia del tejido conectivo en todo el organismo. Objetivo: describir el caso de una paciente con ataxia espinocerebelosa tipo 2 y síndrome de Ehrlers Danlos. Caso clínico: paciente femenina, blanca, de 34 años de edad, con diagnóstico de Ehlers-Danlos, que mantiene tratamiento con relajantes musculares y antinflamatorios. Hace tres años se le diagnostica ataxia espinocerebelosa tipo 2. Conclusiones: el análisis de las alteraciones del síndrome de Ehlers Danlos y la ataxia espinocerebelosa tipo 2, a través de técnicas cuantitativas y la propia observación clínica, ofrecen oportunidades para el enriquecimiento del estudio de la fisiopatología de estas enfermedades. Ambas técnicas constituyen marcadores fenotípicos para evaluar el efecto de terapias que modulen el estado funcional de los pacientes.


Background: spinocerebellar ataxia type 2 is a disease caused by the increase in the number of trinucleotide repeats consisting of adenine codon, cytosine and guanine, in the codifiable region ATNX2 gene, located in the long arm of chromosome 12. It is characterized by a syndrome cerebellar associated with progressive slowing of saccadic eye movements, peripheral neuropathy, sleep disorders and in some cases manifestations of parkinsonism. Ehlers-Danlos is given by the laxity of joints, making them unstable. The mutation of genes involved in its genesis alters the structure, production or processing of collagen, causing alterations in the structure and strength of connective tissue throughout the body. Objective: to describe the case of a patient with spinocerebellar ataxia type 2 and Ehrler Danlos syndrome. Case report: a 34- year- old white female patient, diagnosed with Ehlers-Danlos, who maintains treatment with muscle relaxants and anti-inflammatory drugs. Three years ago she was diagnosed with spinocerebellar ataxia type 2. Conclusions: the analysis of changes in the Ehlers Danlos syndrome and of spinocerebellar ataxia type 2, through quantitative techniques and clinical observation itself, offers opportunities for enriching the study of the pathophysiology of these diseases. Both techniques are phenotypic markers to evaluate the effect of therapies which modulate the functional status of patients.

5.
Fisioter. pesqui ; 20(3): 293-298, jul.-set. 2013. ilus, tab
Article in Portuguese | LILACS | ID: lil-690051

ABSTRACT

A ataxia espinocerebelar (SCA) é uma afecção hereditária que cursa com a degeneração progressiva do cerebelo e suas vias, causando alterações do equilíbrio e de outras funções. O efeito das abordagens da fisioterapia no tratamento da SCA e a qualidade metodológica desses estudos foram analisados. Foi investigado ainda se os benefícios alcançados com o tratamento são retidos. As intervenções encontradas incluem treino do equilíbrio, marcha e coordenação; fortalecimento; caneleiras nos membros durante exercícios e aplicação de estimulação magnética transcraniana. A retenção das melhoras obtidas com o tratamento foi relacionada ao grau de evolução da SCA e à continuidade da prática de exercícios. Porém, novos estudos com maior rigor científico são necessários para eleger as abordagens mais adequadas para o tratamento de portadores de SCA...


The spinocerebellar ataxia (SCA) is an inherited disorder that leads to progressive degeneration of the cerebellum and its pathways with impairments of balance and other functions. Physical therapy studies for SCA treatment and their methodological quality were examined. We also investigated if the benefits achieved with treatment can be retained. The interventions identified included balance, gait and coordination training; strengthening; weights around the limbs during exercise and transcranial magnetic stimulation. The long-term improvements were related to the degree of SCA evolution and the continuity of exercise practice. Nevertheless, further studies with higher scientific accuracy are necessary to elect the best physical therapy approaches for SCA patients...


La ataxia espinocerebelosa (SCA) es una afección hereditaria que cursa con la degeneración progresiva del cerebelo y de sus vías, lo que causa alteraciones del equilibrio y de otras funciones. El resultado de los abordajes de la fisioterapia en el tratamiento de la SCA y la cualidad metodológica de estos estudios fueron analizados. Se investigó si los beneficios alcanzados con el tratamiento fueron retenidos. Las intervenciones encontradas incluyen entrenamiento del equilibrio, marcha y coordinación; fortalecimiento; canilleras en los miembros durante ejercicios y aplicación de la estimulación magnética transcraneana. La retención de las mejorías obtenidas con el tratamiento fue relacionada al grado de evolución de la SCA y a la continuidad de la práctica de ejercicios. Aunque nuevos estudios con mayor carácter científico son necesarios para elegir los abordajes más adecuados para el tratamiento de los portadores de la SCA...


Subject(s)
Spinocerebellar Ataxias/pathology , Spinocerebellar Ataxias/therapy , Spinocerebellar Degenerations/therapy , Spinocerebellar Ataxias/genetics , Physical Therapy Modalities , Transcranial Magnetic Stimulation
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