ABSTRACT
BACKGROUND:Our previous study has shown that the prevalence and structure of the neurohereditary diseaseswere different by provinces and some form of these diseases as “indigenous” in some isolatedpopulation. There are some scientific results of our researches–genetics about consanguineous,which is more potential factor of community is some area of Mongolia. All these circumstance isgiving to carry out this study.MATERIALS AND METHODS:We used descriptive epidemiological method for revealing hereditary neurological diseases in thepopulation of 6 provinces (aimags) of Mongolia: Dornogobi (Easth-gobi), Sukhbaatar, Gobisumber,Central aimag, Bulgan, and Darkhan-Uul. Total population of these provinces is 363072. Thenumber of population in 6 provinces was fluctuated in the range from 15.000 (Govisumber) to 88.875(Darkhan-Uul). Prevalence was accounted for 100.000 populations.RESULTS:The prevalence of neurohereditary diseases makes up 17.08 cases per 100.000 populations amongthese 6 provinces. 79% of these are hereditary neuromuscular diseases i.e 49 patients from 29families. Myotonic dystrophia and genetic neuropathies Charcot-Marie-Tooth have comparativehigh prevalence over test forms of disease.The high rate neurohereditary diseases was established in the population of Bulgan (35.80•10-5),Sukhbaatar (31.17•10-5), and Dornogobi (21.33•10-5) provinces. Their prevalence’s prevailed in the7-10 times over rates Darkhan-Uul, 3-5 times over rates of Gobisumber aimags.No neuromuscular forms of neurohereditary diseases i.e spastic paraplegia (11.3%) andspinocerebeller ataxia (9.68%) accounts for 21% among all forms of neurohereditary diseases.The prevalence of neuromuscular diseases in the population of these six provinces is two times highthen the average rate of the population of Russia (1980 years). First reason is may be associatedwith high predisposition of based on consanguineous through reproductive way in some of theseprovinces of Mongolia.
ABSTRACT
La enfermedad de Steinert es una enfermedad genética que se hereda con un patrón autosómico dominante, resultado de la expansión de la repetición de trinucleótidos CTG gen en el cromosoma 19, que codifica una proteína quinasa. Es una forma grave de distrofia muscular caracterizada por debilidad generalizada y degeneración muscular. El debut puede ocurrir en cualquier momento desde el nacimiento hasta la edad madura. Las complicaciones durante el embarazo son el aborto espontáneo, parto prematuro, el hidramnios, atonía uterina posparto, distocias intraparto y accidentes anestésicos. Presentamos el caso de una gestante de 37 años, asintomática con una anamnesis familiar sin patología de interés. Fue diagnosticada de diabetes gestacional y polihidramnios inespecífico en la semana 30 de embarazo. Acudió a nuestro centro en semana 35 de gestación por dinámica uterina y metrorragia. Se realizó una cesárea extrayéndose un feto masculino, con graves dificultades respiratorias y miotonía generalizada. Posteriormente, el neonato fue diagnosticado de enfermedad congénita de Steinert. El análisis genético de la madre reveló que ella padecía la misma enfermedad. El diagnóstico de enfermedad congénita de Steinert es muy difícil, sobretodo cuando los padres no son conscientes de la enfermedad. Nuestro objetivo es enfatizar en la importancia de una buena anamnesis y los marcadores que se pueden encontrar por ultrasonidos, como hidramnios, reducción del tono fetal y los movimientos activos, artrogriposis, micrognatia, que nos puede proporcionar al menos una sospecha prenatal.
Steinert's disease is a genetic condition, which is inherited in an autosomal dominant pattern, result from expansion of CTG trinucleotide repeat gene on chromosome 19, enconding a putative protein kinase. It is a severe form of muscular dystrophy marked by generalised weakness and muscular wasting. The onset can be any time from birth to middle age. The complications during pregnancy are miscarriage, premature labour, hydramnios, atonic postpartum hemorrhage, difficulties during delivery, anesthetic accidents. We report the case of a healthy 37 years old pregnant, with an ordinary family anamnesis. She was diagnosed of gestational diabetes and inespecific polyhydramnios during her 30 week of pregnancy. Due to labour contractions and metrorrhagia in the 35 week she came to our emergency department. She underwent a cesarean section delivery of a male baby, who suffered severe breathing difficulties and generalized myotonia. Afterwards, the baby was diagnosticated with Steinert's congenital disease. Following genetic analysis of the mother revealed that she also suffers Steinert's disease. The diagnosis of the congenital Steinert's disease is really difficult, when the parents are unaware of the disease. Our objective is to emphasize in the importance of a good anamnesis and the characters that can be found out by ultrasound like hydramnios, reduction of fetal tone and active movements, micrognathia, arthrogryposis, that can bring us at least to a prenatal suspicion.