DISTROFIA MIOTONICA STEINERT PDF

Myotonic dystrophy is an unusual entity, which is rarely associated with pregnancy 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.

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Myotonic dystrophy is an unusual entity, which is rarely associated with pregnancy 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..

ISSN: X. Descargar PDF. Barber a , I. Eguiluz a , W. Plasencia a , O. 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. Mendel, R. Principios de medicina interna, pp.

Congenital myotonic dystrophy in Britain. Clinical aspects. Arch Dis Child, 50 , pp. Can, F. Schaefer, S. Malik, M. Floyd, B. Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis. J Okla State Med Assoc, 91 , pp.

Spranger, B. Janssen, D. Rating, S. Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Nervenarzt, 70 , pp. Smeets, W. Nillesen, F.

Los, H. Busch, R. Korneluk, B. Wieringa, et al. Prenatal diagnosis of myotonic dystrophy by direct mutation analysis. Lancet, , pp. Tachi, K. Ohya, S. Chiba, T. Sato, K. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.

Pediatr Neurol, 12 , pp. Ashizawa, J. Dubel, P. Dunne, Y. Fu, A. Pizzuyi, C. Caskey, et al. Anticipation in myotonic dystrophy. Complex relationships between clinical findings and structure of the GCT repeat. Neurology, 42 , pp. Marcelino, A. Espejo, J. Herrera, M. Pahino, M. Burgos, J. Clin Invest Ginecol Obstet, 25 , pp. Avaria, V. Myotonic dystrophy: relative sensitivity of symptoms signs and abnormal investigations. Ulster Med J, 63 , pp. Krstic, J.

Gospavic, S. Dozic, Z. Vidakovic, B. Correlation of the myotonic syndrome in dystrophic and congenital myotonia. Neurologia, 26 , pp. Obstet Gynecol, 45 , pp. Linoli, P. Ceccatelli, G. Description of a case presenting with dysphagia. Pathologica, 84 , pp. Nonaka, O. Kobayashi, S. Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

Semin Pediatr Neurol, 3 , pp. Renault, A. Early electromyographic signs in congenital myotonic dystrophy. A study of ten cases. Neurophysiol Clin, 21 , pp. Sun, E. Myotonic dystrophy: limited electromyographic abnormalities in 2 definite cases. Clin Genet, 23 , pp. DiRocco, M. Gennarelli, E. Veneselli, M. Bado, M. Romanengo, M. Celle, et al. Diagnostic problems in congenital myotonic dystrophy. Eur J Pediatr, , pp.

Myotonic dystrophy: forgotten aspects of an often neglected condition. Curr Opin Neurol, 10 , pp. Carroll, M. Brooke, K. Letter: diagnosis of infantile myotonic dystrophy. Lancet, 2 , pp.

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Distrofia miotónica

Myotonic dystrophy is a long-term genetic disorder that affects muscle function. Myotonic dystrophy is an autosomal dominant disorder which is typically inherited from a person's parents. There is no cure. Myotonic dystrophy affects more than 1 in 8, people worldwide. DM1 symptoms for DM2 include problems with executive function e.

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