LOADING...

DISTROFIA MIOTONICA DE STEINERT PDF

La enfermedad de Steinert es una rara miopatía hereditaria caracterizada por debilidad muscular generalizada, miotonía y afección multisistémica. Aunque los . Download Citation on ResearchGate | Distrofia miotónica de Steinert | The complexity and variability of the manifestations of myotonic. PDF | La distrofia miotónica de Steinert (DM1) es una enfermedad hereditaria, caracterizada por desórdenes multisistémicos asociados a disfunción muscular.

Author: Samucage Malasida
Country: China
Language: English (Spanish)
Genre: Relationship
Published (Last): 2 August 2018
Pages: 126
PDF File Size: 19.56 Mb
ePub File Size: 4.55 Mb
ISBN: 171-5-47398-275-6
Downloads: 56879
Price: Free* [*Free Regsitration Required]
Uploader: Kagami

Myotonic dystrophy is an unusual entity, which is rarely associated with pregnancy due to the steibert that those people who are affected usually present with genital atrophy and hypogonadism. Its association with pregnancy can lead to different problems. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage.

Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction in fetal movements, and a slow fetal heart rate. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of eteinert congenital form of myotonic dystrophy. The congenital form has a poor prognosis, and is more difficult to diagnose.

Today, molecular genetic techniques allow to make both prenatal and an distrodia neonatal diagnosis. Barber aI. Eguiluz aW. Plasencia aO. Hospital Universitario Materno-Infantil de Canarias. Las Palmas de Gran Canaria. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

Principios de medicina interna, pp. Congenital myotonic dystrophy in Britain. Arch Dis Child, 50pp. Clinical expression of myotonic dystrophy: J Okla State Med Assoc, 91pp. Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Nervenarzt, 70pp. Prenatal diagnosis of myotonic dystrophy by miohonica mutation analysis. Lancet,pp. ,iotonica somatic instability of CTG repeat in congenital myotonic dystrophy.

  AIRHEAD BEING NIKKI MEG CABOT PDF

Pediatr Neurol, 12pp. Anticipation in myotonic dystrophy. Complex relationships between clinical findings and structure of the GCT repeat.

Neurology, 42pp. Clin Invest Ginecol Obstet, 25pp. Ulster Med J, 63pp. Correlation of distrofi myotonic syndrome in dystrophic and congenital myotonia. Neurologia, 26pp. Obstet Gynecol, 45 motonica, pp. Description of a case presenting with dysphagia. Pathologica, 84pp. Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

Semin Pediatr Neurol, 3pp. Early electromyographic signs in congenital myotonic dystrophy. A study of ten cases. Neurophysiol Clin, 21pp. Clin Genet, 23pp.

Diagnostic problems in congenital myotonic dystrophy. Eur J Pediatr,pp. Curr Opin Neurol, 10pp.

Distrofia Miotonica de Steiner | Publish with Glogster!

Lancet, 2pp. Congenital myotonic dystrophy [abstract]. Tidsskr Nor Laegeforen,pp. Pediatrie, 47pp. Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. Minerva Pediatr, 53pp. A neonatal case of congenital myotonic dystrophy.

Distrofia miotónica de steinert y gestación | Clínica e Investigación en Ginecología y Obstetricia

Acta Biomed Ateneo Parmense, 71pp. Fetal akinesia deformation sequence. Pena-shokeir type I syndrome. Ultras Obstet Gyneacol [en prensa].

Distrofia Miotonica de Steiner

Toko-Gin Pract, 61pp. Anal abnormalities in childhood myotonic dystrophy: Arch Dis Child, 67pp. A case report and recent literature. J Gynecol Obstet Biol Reprod, 24pp.

Myotonic dystrophy and pregnancy: Obstet Gynecol Surv, 41pp. Myotonic dystrophy and pregnancy. A report of two cases and a review of the literature. Computations for prenatal prediction of myotonic dystrophy. Lancet, 1pp. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

  LOVE ON CUE BY CATHERINE HAPKA PDF

J Med Genet, 29pp.

Molecular basis of miotonic dystrophy: Cell, 68pp. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol, 35pp. Obstetric complications as the first sign of myotonic dystrophy.

Acta Obstet Gynecol Scand, 65pp.

J Genet Hum, mioonicapp. First-trimester prediction in fetus at risk for myotonic dystrophy. Prenat Diagn, 11pp.

Van de Biezenbos, J. Dystrophia myotonica and pregnancy [abstract]. Ned Tijdschr Geneeskd,pp. Neonatal form of dystrophia myotonica. Five cases in preterm babies and review of early reports. Arch Dis Child, 54pp. The movements of fetuses with congenital myotonic dystrophy in utero. J Perinat Med, 24pp. Recurrent hydramnios in association with myotonia dystrophica. Obstet Gynecol, 42pp.

Myotonic dystrophy is a significant cause dustrofia idiopatic polyhydramnios. Am J Obstet Gynecol,pp. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death.

There was a problem providing the content you requested

J Reprod Med, 28pp. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Sistrofia Gynecol, 20pp. DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. Prenat Diagn, 13pp.

Identification of minimal expression of myotonic dystrophy using electroretinography.

Electroencephalogr Clin Neurophysiol, 61pp. Persistent tunica vasculosa diztrofia as a sign of congenital myotonic dystrophy. J Pediatr Ophthalmol Strabismus, 31pp. Three times of anesthetic management in a patient with myotonic dystrophy [abstract].