Atrofia muscular espinal: revisión de nuestra casuística en los últimos 25 años
作者： A. Madrid Rodríguez , P.L. Martínez Martínez , J.M. Ramos Fernández , A. Urda Cardona , J. Martínez Antón
DOI: 10.1016/J.ANPEDI.2014.06.021
关键词:
摘要: Resumen Objetivos Conocer la incidencia de atrofia espinal infantil (AME) en nuestra poblacion y estudiar distribucion genetica las caracteristicas epidemiologicas clinicas, el nivel cuidados su evolucion. Material metodo Estudio descriptivo retrospectivo los pacientes atendidos nuestro hospital ultimos 25 anos (1987-2013), con diagnostico clinico neurofisiologico AME. Resultados Se hallo a 37 pacientes, lo que supone una aproximada 1/10.000 recien nacidos vivos. Predominaba sexo masculino (relacion varon/mujer: 1,6/1). El tipo AME diagnosticado mas frecuentemente fue i (26 casos), seguido del ii (9 un caso iii , otro spinal muscular atrophy with respiratory distress type 1 (SMARD 1). La alteracion frecuente delecion homocigosis exones 7 8 gen SMN1, 31 casos, mientras 5 presentaban atipica. mediana supervivencia para 8,0 meses 15,8 . Conclusiones permanece estable torno 1/10.000. mayoria casos presenta tipica predominio varones. En aproximadamente 1/10 diferente clasica. prevalencia no relacionadas SMN 1/37. se ha incrementado anos, consonancia demandas sociales asistenciales.
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