25 Jun Download Citation on ResearchGate | Distrofia miotónica de Steinert | The complexity and variability of the manifestations of myotonic. La distrofia miotónica de Steinert (DM1) es una enfermedad hereditaria, caracterizada por desórdenes multisistémicos asociados a disfunción muscular. Una de. Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various.

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Molecular basis of miotonic dystrophy: The congenital form has a poor prognosis, and is more difficult to diagnose. Identification of minimal expression of myotonic dystrophy using electroretinography.


Si continua navegando, consideramos que acepta su uso. Tidsskr Nor Laegeforen,pp. Semin Pediatr Neurol, 3pp. Afektazio kolikoa oso gutxitan gertatzen da.

Steinert’s disease is steinertt distrofia muscular de steinert hereditary myopathy characterized by generalized muscular weakness, myotony, and multisystemic involvement.

Clin Invest Ginecol Obstet ; Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy.

Obstet Gynecol, 45pp. J Okla State Med Assoc, 91pp. Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. Minerva Pediatr, 53 disyrofia, pp. Persistent tunica vasculosa lentis as a sign of congenital myotonic dystrophy.


Enero Syeinert miotonica distrofia muscular de steinert steinert Anterior — Documento Siguiente. At all I do not know, that here and to tell that it is possible. Myotonic dystrophy with no trinucleotide repeat expansion. J Okla State Med Assoc, 91pp. Uterine contractions during labor in myotonic muscular dystrophy.

Clin Muscukar Ginecol Obstet, distrofia miotonica de steinertpp. Check if you have access through your login credentials or your institution. Neonatal form of dystrophia myotonica.

Orphanet: Distrofia miotonica di Steinert Distrofia miotonica tipo 1

J Gynecol Obstet Biol Reprod, 24pp. Medicina Interna de Mexico. Distrofia muscular de steinert disease is associated with abnormalities at the 19q locus abnormally high CTG triplet repetition. Semin Pediatr Neurol, 3pp. Molecular basis of miotonic dystrophy: Ultrasound Obstet Gynecol, 20pp. Colonic pseudoobstruction is a rare complication.

A study of ten cases. Myotonic dystrophy and pregnancy. Description of a case presenting with dysphagia. Principios de medicina interna, pp. Prenat Diagn, 11pp. Pena-shokeir type I syndrome. Ann Neurol, 35pp. The material is in no way intended to replace professional medical care distrofia muscular de steinert a qualified specialist and should not be used as a basis for diagnosis or treatment.

Distrofia muscular de steinert times of anesthetic management in a patient with myotonic dystrophy [abstract]. Myotonic dystrophy distrogia a significant cause of idiopatic polyhydramnios. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.


Clínica e Investigación en Ginecología y Obstetricia

Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. Only comments written in Distrofia muscular de steinert can be processed. Computations for prenatal prediction of myotonic distrofia muscular de steinert. Complex relationships between clinical findings and structure of the GCT repeat.

Congenital myotonic dystrophy [abstract]. Toko-Gin Pract, 61pp. Recurrent hydramnios in association with myotonia dystrophica. Five cases in preterm babies and review of early reports. Myotonic dystrophy and pregnancy: Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. Prognosis Disease course is mmuscular slowly progressive but rapid deterioration may sometimes be observed.

Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy.