Esclerosis lateral amiotrófica, revisión epidemiológica, clínica y terapéutica de una catastrófica enfermedad neurológica en términos pronósticos
Resumen
La esclerosis lateral amiotrófica (ELA) es un trastorno neurodegenerativo que afecta principalmente al sistema motor, pero en el que se reconocen cada vez más las manifestaciones extramotoras. La pérdida de neuronas motoras superiores e inferiores en la corteza motora, los núcleos del tronco encefálico y el asta anterior de la médula espinal da lugar a una debilidad muscular progresiva y atrofia. ALS a menudo tiene un inicio focal, pero posteriormente se propaga a diferentes regiones del cuerpo, donde la falla de los músculos respiratorios generalmente limita la supervivencia de 2 a 5 años después del inicio de la enfermedad. Hasta en el 50% de los casos existen manifestaciones extramotoras como cambios en el comportamiento, disfunción ejecutiva y problemas del lenguaje. En el 10%-15% de los pacientes, estos problemas son lo suficientemente graves como para cumplir los criterios clínicos de demencia frontotemporal (DFT). En el 10% de los pacientes con ELA, los antecedentes familiares sugieren un patrón de herencia autosómico dominante. El 90% restante no tiene familiares afectados y se clasifican como ELA esporádica. Las causas de la ELA parecen ser heterogéneas y solo se comprenden parcialmente. Hasta la fecha, se han asociado más de 20 genes con la ELA. La causa genética más común es una expansión repetida de hexanucleótidos en el Gen C9orf72 , responsable del 30-50% de la ELA familiar y del 7% de la ELA esporádica. Estas expansiones también son una causa frecuente de demencia frontotemporal, lo que enfatiza la superposición molecular entre ALS y DFT. Hasta el día de hoy, no existe una cura o un tratamiento eficaz para la ELA y la piedra angular del tratamiento sigue siendo la atención multidisciplinaria, que incluye el apoyo nutricional y respiratorio y el control de los síntomas. En esta revisión, se discuten diferentes aspectos de la ELA, incluida la epidemiología, la etiología, la patogenia, las características clínicas, el diagnóstico diferencial, las investigaciones, el tratamiento y las perspectivas futuras.
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Derechos de autor 2022 Juan Sebastián Theran león ;Luis Andrés Dulcey Sarmiento ;Estephania Saenz Sandoval;Eliana Rocio Arango Fontecha;Didier Karina Vera Quintero
Esta obra está bajo licencia internacional Creative Commons Reconocimiento 4.0.
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