Bahena-Martínez E, Fernández-Valverde F, Vargas-Cañas S, Jiménez-Fosado JC

Idioma: Español
Referencias bibliográficas: 18
Paginas: 60-65
Archivo PDF: 181.16 Kb.

RESUMEN

Las miopatías congénitas son un grupo heterogéneo de enfermedades neuromusculares de origen genético. La miopatía nemalínica es una patología importante que forma parte de este grupo de enfermedades; su incidencia es de 1 en 50,000 recién nacidos vivos. Dependiendo del grado de debilidad muscular, gravedad y edad de inicio se clasifican en seis subtipos. Las principales características clínicas son hipotonía o debilidad generalizada en músculos faciales, axiales y región proximal de extremidades; sin embargo, la presencia de cardiopatía es rara. En este estudio se presenta el caso clínico de un paciente sin antecedentes heredofamiliares ni neuromusculares de importancia con diagnóstico de miopatía nemalínica asociada a paladar hendido submucoso y cardiopatía.

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