Enfermedad de Charcot-Marie-Tooth: revisión con énfasis en la fisiopatología del pie cavo
作者： J. Berciano , E. Gallardo , A. García , A.L. Pelayo-Negro , J. Infante
DOI: 10.1016/J.RECOT.2010.09.007
关键词: Surgery 、 Orthopedics and Sports Medicine
摘要: Resumen La enfermedad de Charcot-Marie-Tooth es la neuropatia hereditaria mas frecuente con una prevalencia en Espana 28,2 casos/100.000 habitantes. Se trata un sindrome polineuropatico sensitivo-motor, desmielinizante o axonal, que puede transmitirse herencia autosomica dominante, recesiva, ligada al cromosoma X. Pese a su semiologia estereotipada, geneticamente complejo, dado se han localizado 36 loci treintena genes mutantes clonados. Analizamos los mecanismos patogenicos estas mutaciones genicas. Abordamos fisiopatologia del pie cavo, manifestacion cardinal enfermedad. En estadios clinicos iniciales, el cavo probablemente sea desencadenado por desnervacion selectiva musculatura intrinseca pie, causa desequilibrio entre sus musculos intrinsecos y extrinsecos dedos garra, retraccion fascia plantar, elevacion arco acortamiento tendon Aquiles. Revisamos diagnostico tratamiento
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