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.

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Anticipation in myotonic dystrophy. Prenatal diagnosis of myotonic dystrophy by direct mutation analysis.

Neuromuscular disorders

J Reprod Med, 28pp. Uterine contractions during labor in myotonic muscular dystrophy. Neuromusc Disord ; 6: You can change the settings or obtain more information by clicking here. Pena-shokeir type I syndrome. Poulton J, Turnbull DM.

A report of two cases and a review of the literature. Its association with pregnancy can lead to different problems.


Distrofia muscular (para Padres)

Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction in fetal movements, and a slow fetal heart rate. Obstetric complications as the first sign of myotonic dystrophy. Genetic risks for children of women with myotonic dystrophy.

Amiotrofia espinal infantil AEI. Tidsskr Nor Laegeforen,pp.

DNA confirmation of congenital myotonic diwtrofia in non-immune hydrops fetalis. Prenat Diagn, 11pp. Neurologia, 26pp. Muntoni F, Guicheney P. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy.

Distrofia muscular

Cell, 68pp. Neonatal form of dystrophia myotonica. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Las Palmas de Gran Canaria. Neurophysiol Clin, 21distrlfia.

Spinal muscular atrophy – clinical and genetic correlations. Electroencephalogr Clin Neurophysiol, 61pp.

Arch Dis Child, 54pp. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Neonatal myotonic dystrophy distrpfia a cause of hydramnios and neonatal death.

How to cite this article. The movements of fetuses with congenital myotonic dystrophy in utero.


Se continuar a navegar, consideramos que aceita o seu uso. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome.

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Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy. Myotonic dystrophy and pregnancy: Lancet, 1pp.

Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. Muwcular addition, it is based on Medline and on the review of the most recent numbers of Neuromuscular Disorders, the official journal of the World Muscle Society. Prenat Diagn, 13pp. Myotonic dystrophy and pregnancy.