{"id":141542,"date":"2026-01-12T18:03:17","date_gmt":"2026-01-12T18:03:17","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/distrofia-miotonica-en-guipuzcoa-aspectos-epidemiologicos-clinicos-y-geneticos\/"},"modified":"2026-01-12T18:03:17","modified_gmt":"2026-01-12T18:03:17","slug":"distrofia-miotonica-en-guipuzcoa-aspectos-epidemiologicos-clinicos-y-geneticos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/distrofia-miotonica-en-guipuzcoa-aspectos-epidemiologicos-clinicos-y-geneticos\/","title":{"rendered":"Distrofia miotonica en guipuzcoa: aspectos epidemiologicos, clinicos y geneticos."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Lopez De Munain Arregui Adolfo Jose <\/strong><\/h2>\n<p>Los objetivos del estudio son, conocer la preValencia de la distrofia miotonica (dm) en guipuzcoa, sus aspectos clinicos y geneticos, la fecundidad y tasa de abortos de los afectados y el valor predictivo de la exploracion clinica negativa en los familiares a riesgo asintomaticos. Los analisis del dna se realizaron a 116 familiares asintomaticos y a 23 con un sindrome parcial, usando las sondas apocii, ck-mm, d19s63, p134c y pew1.1.  se hallaron un total de 183 pacientes con dm, procedentes de 72 familias diferentes, lo que da una preValencia de 26.5 casos\/100.000 h. En la fecha del 31\/8\/1991. La afectacion muscular era escasa, si la clinica se iniciaba despues de los 45 a\u00f1os. Para las madres afectas, el riesgo de tener un hijo con dm neonatal es de un 30%, y es 4 veces mayor para las madres que desarrollan sintomas antes de los 40 a\u00f1os que para las que lo hacen despues de esa edad. La anticipacion media era de 2,86 decadas y dependia del sexo del progenitor afecto y de la edad de inicio de los sintomas si era varon. La fertilidad era inferior a la de poblacion normal pero superior a la media provincial considerando solo los casados. Las mujeres con dm, duplicaban la tasa poblacional de abortos. El analisis del dna descubrio que el 13% de los familiares a riesgo y el 70% de los afectados de un sindrome parcial eran portadores.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Distrofia miotonica en guipuzcoa: aspectos epidemiologicos, clinicos y geneticos.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Distrofia miotonica en guipuzcoa: aspectos epidemiologicos, clinicos y geneticos. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Lopez De Munain Arregui Adolfo Jose <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Navarra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1992<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Manuel Martinez Lage<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Gonzalo Sanz  Luis Mar\u00eda <\/li>\n<li>Ignacio Alberola Gomez-escolar (vocal)<\/li>\n<li>Jos\u00e9 Angel Berciano Blanco (vocal)<\/li>\n<li>Eduardo Gutierrez Rivas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Lopez De Munain Arregui Adolfo Jose Los objetivos del estudio son, conocer la preValencia de la distrofia [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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