Anales de la Facultad de Ciencias Médicas (Asunción)
versão impressa ISSN 1816-8949
RUOTI COSP, Miguel et al. Multidisciplinary management and prenatal diagnosis of myotonic distrophy adult from in pregnancy. An. Fac. Cienc. Méd. (Asunción) [online]. 2005, vol.38, n.1-2, pp.86-90. ISSN 1816-8949.
Myotonic Dystrophy adult form (MDA) is a rare neuroendocrine degenerative disease of genetic origin with autosomal dominant inheritance. Its main characteristics are myotonic dystrophy and muscular weakness. MDA is infrequently associated with pregnancy, since patients often have hypogonadism. Pregnancy is often aggravated with the presence of hydramnios and other common complications are; premature birth and post partum haemorrhages. This disease affects a number of different organs and systems, for that reason it deserves the formation of a multidisciplinary team to attend this group of patients. We present the case of a pregnant woman with a positive family history and the clinical characteristics of MDA, with the prenatal diagnosis and the suspicion of congenital Myotonic Dystrophy in her offspring. We created a multidisciplinary team for the clinical and obstetric management of the mother and her child to try and improve the final outcome.
Palavras-chave : Myotonic Distrophy; pregnancy; multidisciplinary management; prenatal diagnosis.