Información del artículo
Summary
Myotonic dystrophy is an unusual entity, which is rarely associated with pregnancy due to the fact that those people who are affected usually present with genital atrophy and hypogonadism. It is a neuro-endocrine «inherit-degenerative» dystrophy, with dominant autosomic transmission. Its association with pregnancy can lead to different problems. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage. Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction in fetal movements, and a slow fetal heart rate. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. The congenital form has a poor prognosis, and is more difficult to diagnose. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.
Resumen
La distrofia miotónica es una entidad infrecuente, raramente asociada a la gestación debido a que las personas afectadas suelen presentar atrofia genital con hipogonadismo. Se trata de una distrofia neuroendocrina heredodegenerativa, con transmisión autosómica dominante. Su asociación con el embarazo produce diferentes alteraciones: agravamiento de la miotonía y aumento de las complicaciones obstétricas, como un incremento de la tasa de abortos, un parto prematuro, hidrops fetal, muerte intrauterina, expulsivo prolongado, hemorragias intraparto o posparto, etc. Los signos que orientan a una afección fetal durante la gestación son: hidrops, hidramnios, disminución de los movimientos fetales y enlentecimiento del ritmo cardíaco, y los que sugieren una distrofia miotónica en su variante congénita son: antecedentes familiares, hipotonía grave o distrés respiratorio grave.
La variante congénita tiene un peor pronóstico y un diagnóstico más difícil. Actualmente, las técnicas de genética molecular permiten la realización de un diagnóstico prenatal y neonatal precoz de la enfermedad.
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