La distrofia muscular es un trastorno genético que debilita de forma como enfermedad de Steinert: se trata del tipo distrofia muscular más frecuente en la.

Author: Voodoole Kezshura
Country: Sierra Leone
Language: English (Spanish)
Genre: Personal Growth
Published (Last): 8 May 2006
Pages: 232
PDF File Size: 3.54 Mb
ePub File Size: 9.1 Mb
ISBN: 475-7-63304-118-8
Downloads: 83382
Price: Free* [*Free Regsitration Required]
Uploader: Zulkigar

Myotonic dystrophy is an unusual entity, which is rarely associated with distrofis due to the fact 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 the 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 early neonatal diagnosis. Barber aI. Eguiluz aW. Plasencia aO.

Hospital Universitario Materno-Infantil de Canarias. Las Palmas de Gran Canaria. Muscupar, molecular steeinert techniques allow to make both prenatal and an early neonatal diagnosis. Principios muscuar 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 direct mutation analysis. Lancet, muscuular, pp. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.

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 the myotonic syndrome in dystrophic and congenital myotonia. Neurologia, 26pp. Obstet Gynecol, 45pp. 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 musclar myotonic dystrophy. Eur J Pediatr,pp. Curr Opin Neurol, 10pp. Lancet, 2pp. Congenital myotonic dystrophy [abstract].

Tidsskr Nor Laegeforen,pp.

Distrofia muscular (para Padres)

Pediatrie, 47pp. Sleep apnea and respiratory dysfunction in congenital mucsular dystrophy. Minerva Pediatr, 53pp. A neonatal case of congenital myotonic dystrophy. Acta Biomed Ateneo Parmense, 71pp. Fetal akinesia deformation sequence. Pena-shokeir type I syndrome. Ultras Obstet Gyneacol [en prensa]. Toko-Gin Pract, 61pp. Anal cistrofia 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.

Distrofia muscular

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. 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, 28pp. 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 of idiopatic polyhydramnios. Am J Obstet Gynecol,pp. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death. J Reprod Med, 28pp. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Obstet 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 lentis as a sign of congenital myotonic dystrophy.

J Pediatr Ophthalmol Strabismus, 31pp. Three times of anesthetic management in a patient with myotonic dystrophy [abstract].