Impacto psicológico de la Ataxia de Friedreich, en pacientes y familiares
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Fecha
2021
Autores
Ávila Rojas, Jennis Jaritza
Bolívar Jiménez, Daniela Liseth
De La Hoz Torres, Odalis Daniela
Domínguez Yepes, Daniela
Guerra Mendoza, María Teresa
Márquez Blanco, Stefany
Mendoza Manotas, María Fernanda
Páez Castro, Dayana
Peralta Jiménez, Yareth Alejandra
Mostapha, Ahmad
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias de la Salud
Facultad de Ciencias de la Salud
Resumen
El termino ataxia de Friedrich (FRDA) normalmente se caracteriza por una ataxia lentamente progresiva con inicio antes de la edad de 25 años, normalmente está asociada con reflejos del tendón deprimidos, disartria, respuestas de Babinski, pérdida del sentido de la posición y vibración, y cardiomiopatía. Introducción: la enfermedad ataxia de Friedrich se ve reflejada Aproximadamente en el 25% de casos los cuales tienen una presentación «atípica» con el inicio más tarde (después de la edad de 25 años), los reflejos del tendón retenidos, y una progresión gradual inusual de la enfermedad. Ataxia de Friedreich (FA) Las causas más comunes de ataxia autosómica recesiva Blanco; su frecuencia se estima en 1/40 Millones de nacidos vivos. La característica clínica particular de cada variante permite reducir la cantidad de pruebas moleculares, además de que la comprensión de los mecanismos moleculares conduce a dilucidar la fisiopatología y crear modelos terapéuticos. Debido a la expansión de triples GAA en intrones Gen 1 de FXN (frataxina), su proteína está involucrada Metabolismo del hierro mitocondrial, Existe en el diagnóstico diferencial de AF Variante de ataxia recesiva y esporádica. La riqueza clínico-semiológica y los avances en la biología molecular han convertido a las ataxias en uno de los temas más apasionantes de la neurología.
Friedrich ataxia (FRDA) is normally characterized by a slowly progressive ataxia with onset before the age of 25 years, usually associated with depressed tendon reflexes, dysarthria, Babinski responses, loss of sense of position and vibration, and cardiomyopathy. Introduction: Friedrich's ataxia disease is reflected in Approximately 25% of cases which have an «atypical» presentation with later onset (after the age of 25 years), retained tendon reflexes, and gradual progression unusual disease. Friedreich's ataxia (FA) The most common causes of autosomal recessive ataxia White; its frequency is estimated at 1/40 Million live births. The particular clinical characteristics of each variant make it possible to reduce the amount of molecular tests, in addition to the fact that the understanding of the molecular mechanisms leads to elucidating the pathophysiology and creating therapeutic models. Due to the expansion of triple GAA in Gen 1 introns of FXN (frataxin), its protein is involved Mitochondrial iron metabolism, It exists in the differential diagnosis of AF Variant of recessive and sporadic ataxia. The clinical-semiological richness and advances in molecular biology have made ataxias one of the most exciting topics in neurology.
Friedrich ataxia (FRDA) is normally characterized by a slowly progressive ataxia with onset before the age of 25 years, usually associated with depressed tendon reflexes, dysarthria, Babinski responses, loss of sense of position and vibration, and cardiomyopathy. Introduction: Friedrich's ataxia disease is reflected in Approximately 25% of cases which have an «atypical» presentation with later onset (after the age of 25 years), retained tendon reflexes, and gradual progression unusual disease. Friedreich's ataxia (FA) The most common causes of autosomal recessive ataxia White; its frequency is estimated at 1/40 Million live births. The particular clinical characteristics of each variant make it possible to reduce the amount of molecular tests, in addition to the fact that the understanding of the molecular mechanisms leads to elucidating the pathophysiology and creating therapeutic models. Due to the expansion of triple GAA in Gen 1 introns of FXN (frataxin), its protein is involved Mitochondrial iron metabolism, It exists in the differential diagnosis of AF Variant of recessive and sporadic ataxia. The clinical-semiological richness and advances in molecular biology have made ataxias one of the most exciting topics in neurology.
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Impacto psicológico, Ataxia de Friedrich, Ataxia autosómica recesiva, Diagnóstico molecular, Fisiopatología, Psychological impact, Friedrich's Ataxia, Autosomal recessive Ataxia, Molecular diagnosis, Pathophysiology
