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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Distrofia muscular (para Padres)

Neurology, 42pp. Description of a case presenting with dysphagia. Am J Obstet Gynecol,pp. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death.

Distrofia muscular

Dystrophia myotonica and pregnancy [abstract]. Prenat Diagn, 11pp. DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. J Gynecol Obstet Biol Reprod, 24pp. Pediatr Neurol, 12pp. Arch Dis Child, 54pp. Lancet, 2pp. A neonatal case of congenital myotonic dystrophy. Are you a health professional able to prescribe or dispense drugs?


Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy. Anticipation in myotonic dystrophy.

Ann Neurol, 35pp. J Okla State Med Assoc, 91pp. Its association with pregnancy can lead to different problems.

Myotonic dystrophy and pregnancy. Curr Opin Neurol, 10pp. Amiotrofia espinal infantil AEI. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy.

Am J Obstet Gynecol, 82pp. Acta Obstet Gynecol Scand, 65pp. Distrfia diagnosis of myotonic dystrophy by direct mutation analysis. Myotonic dystrophy is a significant cause of idiopatic polyhydramnios.

A case report and recent literature. J Perinat Med, 24pp. Ultrasound Obstet Gynecol, 20pp. Plasencia aO. Genetic risks for children of women with myotonic dystrophy. Nebulin expression in patients with nemaline myopathy. Obstetric complications as the first sign of myotonic dystrophy. Myotonic dystrophy with no trinucleotide repeat expansion. Eur J Pediatr,pp. Update on Neuromuscular diseases. Obstet Gynecol Surv, 41pp. Am J Hum Genet ; Tidsskr Nor Laegeforen,pp. Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction musclar fetal movements, and a slow fetal heart rate.


Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. miotnoica

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First-trimester prediction in fetus at risk for myotonic dystrophy. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Arch Dis Child, 50pp. Early electromyographic signs in congenital myotonic dystrophy. Detection of an distrogia fragment of DNA specific to individuals with myotonic dystrophy.

You can change the settings or obtain more information by clicking here. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Tent-shaped mouth as a presenting miotonjca of congenital myotonic dystrophy. Masui, 51pp.