Congenital Myotonic Dystrophy type 1: prenatal manifestations regarding a case

Abstract

Introductions: myotonic dystrophy type 1 is a genetic disorder with great clinical variability in which 
there is a positive association between the number or size of the cytosine, thymine, guanine triplet 
repeats and the severity of the manifestations. The disorder exhibits an intergenerational 
anticipation phenomenon that explains the earlier age of onset of signs and the greater expression of 
clinical signs. Objetive: to describe the prenatal manifestations of myotonic dystrophy type 1. 
Clinical case: 22-year-old female patient with a diagnosis of DM1 since she was 6 years old and with a 
family history of the disorder through the mother's line who came to the clinic with a 22-week 
pregnancy. Multiple signs were reported when performing prenatal fetal ultrasonography due to: 
presentation maintained in the pelvic region, slight ventriculomegaly, lower limbs extended and with 
ventral flexion on the trunk as well as both equinus feet. The birth occurred with a gestation period 
of 33.6 weeks, the Apgar test was 3-3-3, birth weight 2450 gr. Conclusions: the severity of the 
congenital form of myotonic dystrophy type 1 requires close monitoring by a multidisciplinary team 
that extends from the preconception stage, to detect the possible complications described that
worsen the quality of life of patients and their families, and may even to the death of both the 
mother and the newborn, especially during the first year of life.