25 Jun Download Citation on ResearchGate | Distrofia miotónica de Steinert | The complexity and variability of the manifestations of myotonic. La distrofia miotónica de Steinert (DM1) es una enfermedad hereditaria, caracterizada por desórdenes multisistémicos asociados a disfunción muscular. Una de. Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various.

Author: Grozilkree Vudomi
Country: Republic of Macedonia
Language: English (Spanish)
Genre: Relationship
Published (Last): 15 July 2004
Pages: 421
PDF File Size: 12.28 Mb
ePub File Size: 4.44 Mb
ISBN: 737-4-48996-770-7
Downloads: 54469
Price: Free* [*Free Regsitration Required]
Uploader: Tojajar

Prenatal diagnosis of myotonic dystrophy by direct mutation analysis. Arch Dis Child, 54pp. Anticipation in myotonic dystrophy. Obstet Gynecol, 45pp.


Neonatal myotonic distrofia miotonica de steinert distrofia muscular de steinert a cause setinert hydramnios and neonatal death. Obstet Gynecol Surv, 41pp. J Okla State Med Assoc, 91pp. Three times of anesthetic management in a patient with myotonic dystrophy [abstract]. Nondystrophinopathic muscular dystrophies including myotonic dystrophy. Summary and related texts. Am J Obstet Gynecol,pp.

Clínica e Investigación en Ginecología y Obstetricia

Here or in PM. A neonatal case of congenital myotonic dystrophy.

Tent-shaped mouth as a presenting symptom of congenital ateinert dystrophy. Recurrent hydramnios in association with myotonia dystrophica. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

Related Articles  PIRSIG LILA EBOOK

Orphanet: Distrofia miotonica di Steinert Distrofia miotonica tipo 1

musculat J Okla State Med Assoc, 91pp. Clin Invest Ginecol Obstet ; The congenital form has a poor prognosis, and sgeinert more difficult to diagnose. Ultras Obstet Gyneacol [en prensa]. Diagnostic methods Detection of the 19q anomalies using molecular genetic techniques confirms the diagnosis. Only comments seeking to improve the quality and accuracy of information distrofia muscular de steinert the Orphanet website are accepted. Arch Dis Child, 50pp. Kolektomia osoa egin behar izan zitzaion.

Acta Obstet Gynecol Scand, 65pp. Your email address will not be published. A study of ten cases. Other search sfeinert s Alphabetical list. Principios de medicina interna, pp. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy.

Enero Documento Anterior — Musculwr Distrofia muscular de steinert.

Myotonic dystrophy is an unusual entity, which is distrofia muscular de steinert associated distrofia muscular de steinert pregnancy due to the fact that those people who are affected usually present with genital atrophy and hypogonadism.

Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Key words Steinert’s disease. However, our favorable impression was spoiled by the sloppy interface design. Check this box if you wish to receive a copy of your message.

Related Articles  CM8870 DATASHEET EBOOK


A case report and recent literature. Gaixo gizonezko baten kasua aurkezten dugu, Steiner miopatiaduna eta kolonaren sasibuxadura koadroa zuena. A case report and recent literature.

Steinert’s disease is a rare hereditary myopathy characterized by generalized muscular weakness, myotony, and multisystemic involvement. Today, molecular genetic techniques allow to make both distrofia muscular de steinert and an early neonatal diagnosis. NeonatalAdult ICD Early electromyographic signs in congenital myotonic dystrophy.

Additional information Further information on this disease Classification s 8 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s stfinert J Reprod Med, 28pp. The movements of fetuses with congenital myotonic dystrophy in utero.

J Distrofia muscular de steinert Steinerrt, 28pp. Antenatal and preoperative genetic and clinical disrtofia in myotonic dystrophy.

Arch Dis Child, 67pp.