“Estimulación temprana en el desarrollo motor de una paciente con distrofia miotónica de steinert”

Abstract

Steinert Myotonic Dystrophy (DMS) is a disease of genetic origin that can affect both sexes equally, is inherited in a dominant manner, resulting from the expansion of the number of trinucleotide repeats cytosine, thymine, guanine (CTG) in the chromosome 19, it can appear both congenitally, in childhood or adulthood but it has been determined that the congenital form is one of the most serious, the greatest repercussion seen in these patients is at the motor level, so its development goes slowing down The present case is based on the study of a patient of 1 year 10 months who attends in Centro de Salud Tipo B “Pilahuín”. The patient is a native of the province of Tungurahua, canton Ambato, an indigenous ethnic group. The mother reports that her pregnancy was unplanned and that he learned of it when 5 months pregnant, few controls was performed since being a person poor and indigenous ethnic group most of his time engaged in field work for to be able to sustain your home. The girl was born by caesarean at 37 weeks of gestation, at birth the child was very hypotonic and respiratory distress so doctors decide to enter it to the Health Unit, later because of suspicions about dystrophy genetic tests are performed at the Hospital of the Armed Forces where basically the diagnosis of myotonic dystrophy of Steinert is confirmed both the mother and the child, at which point the patient's mother learns of her illness , it should be emphasized that for a better diagnosis other tests that are not available in the country were required. In this work we detail both the antecedents as well as the evolution of the patient. In addition, we intend to determine what benefits early stimulation can bring to her motor development, as well as propose alternative activities that can contribute even more to improving development and quality of the girl life.