La distrofia miotónica es una entidad infrecuente, raramente asociada a la Disease picture of myotonic muscular dystrophy in patients with large CTG triplet . Se describe el caso de un varón de 42 años de edad con diagnóstico de distrofia muscular miotónica e historia de disminución de la fuerza muscular.

Author: Tygoramar Jucage
Country: Italy
Language: English (Spanish)
Genre: Sex
Published (Last): 28 November 2016
Pages: 478
PDF File Size: 5.54 Mb
ePub File Size: 3.37 Mb
ISBN: 828-2-34066-868-1
Downloads: 76610
Price: Free* [*Free Regsitration Required]
Uploader: Shazragore

Neurology, 42pp. Pediatr Neurol, 12pp.

J Gynecol Obstet Biol Reprod, 24pp. Correlation of the myotonic syndrome in dystrophic and congenital myotonia. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. J Okla State Med Assoc, 91pp. Uterine contractions during labor in myotonic muscular dystrophy.

New perspectives in pediatric neuromuscular disorders. Pena-shokeir type I syndrome. Clin Invest Ginecol Obstet, 25pp.

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

Molecular basis of myotonic dystrophy. Prenat Diagn, 11pp. Electroencephalogr Clin Neurophysiol, 61pp. You can change the settings or obtain more information by clicking here.


Identification and characterization of a spinal muscular atrophy-determining gene. Its association with pregnancy can lead to different problems. Muntoni F, Guicheney P. Lancet, 2pp.

Lancet, 1pp. Quantitative analysis of survival motor neuron copies: Congenital Muscular Dystrophy with cerebral white matter hypodensity. Molecular basis of genetic heterogeneity: Clinical and genetic heterogeneity in autosomal recessive miotonia myopathy.

Molecular mechanisms in spinal muscular atrophy: Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction in fetal movements, and a slow fetal heart rate.

Congenital myotonic dystrophy [abstract]. Am J Obstet Gynecol, 82pp. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

J Perinat Med, 24pp. Myotonic dystrophy is a significant cause of idiopatic polyhydramnios.

Curr Opin Neurol, 10pp. First-trimester prediction in fetus at risk for myotonic dystrophy. Congenital Muscular Dystrophy with merosin deficiency. A report of two cases and a review of the literature. Childhood chronic inflammatory demyelinating polyneuropathy: Plasencia aO. Correlation of clinical features and merosin deficiency.


Distrofia muscular

Arch Dis Child, 54pp. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.