Flores-López EN, Tovilla-Ruiz CK, García-Padilla E, Sandoval-Gutiérrez RB, Álvarez-Torrecilla LC

Idioma: Español
Referencias bibliográficas: 31
Paginas: 195-203
Archivo PDF: 545.14 Kb.

RESUMEN

La distrofia miotónica tipo I o enfermedad de Steinert es una enfermedad multisistémica de origen genético autosómica dominante, generada por la alteración de la expansión del trinucletótido CTG, ubicado en el 3’ extremo del gen DPKM (myotonic dystrophy protein kinase) en el cromosoma 19q13.3 con alteraciones en el músculo esquelético, cardiacas, oculares, endocrinas y principalmente neurológicas. Tiene cuatro formas clínicas, el diagnóstico se establece con estudios genéticos, datos clínicos y electromiografía. Hasta ahora el tratamiento es únicamente sintomático y existen múltiples estudios en proceso de traslocaciones genéticas. Comunicamos el caso de una familia con enfermedad de Steinert en la que seis integrantes murieron a consecuencia de las manifestaciones clínicas de la enfermedad.

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