Pregnant with Steinert's disease. presentation of a case
Abstract
A case report of Steinert's disease is made in a 24-year-old woman with a diagnosis made by the clinic, complementary blood tests, electromyography and muscle biopsy, who comes with a pregnancy of approximately 32 weeks almost asymptomatic, with myotonia or phenomenon Steinert's in both hands and slight symptoms of weakness when making physical efforts. A cesarean section was performed at 39.3 weeks, with good results for the mother; the newborn was male with an apgar score of 9/9, weighing 2650 grams and without stigmas of having inherited the severe neonatal form of this disease.Downloads
References
National Institute of Neurological Disorders and Stroke. Distrofia muscular [Internet]. NIH: 2009 [citado 4 Oct 2013] [aprox. 5 pantallas]. Disponible en: http://espanol.ninds.nih.gov/trastornos/distrofia_muscular.htm
Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. En: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editores. Nelson Textbook of Pediatrics. 18 th ed. Philadelphia: Saunders Elsevier; 2007. p. 134.171
Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL. Harrison’s Principles of Internal Medicine. 21 ed. New York: McGraw-Hill Professional; 2011.
Dubrovsky A, Pirra L, Mesa L. Distrofias Musculares. Rev Neurol Argentina. 2009; 1(2):111-125.
Reporte Consensuado basado en los Procedimientos del Encuentro de Expertos en Rottterdam, 7 y 8 de Noviembre en 2007. Neuromusc Dis. 2008; 8: 213-19.
Chamberlain J. Gene therapy of muscular dystrophy. Human Molecular Genetics. 2002; 11(20): 2355-2362.
Onengut S, Kavaslar GN, Battaloglu E, Serdaroglu P, Deymeer F, Ozdemir C, et al. Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. Ann Hum Genet. 2000; 64(Pt 1):33-40.
Armendáriz Cuevasa Y, López Pisóna J, Calvo Martınc MT, Moisés VR, Pena Seguraa JL. Distrofia miotónica. Nuestra experiencia de 18 años en consulta de Neuropediatría. An Pediatr (Barc) [Internet]. 2010 [citado 12 Oct 2013]; 72(2): 133-138. Disponible en: https://www.integromics.com/wp-content/uploads/2012/04/DM-consulta-espan%CC%83ol.pdf
Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatr [Internet]. 2010 [citado 12 Oct 2013]; 81:358-367. Disponible en: http://myotonicdystrophy.com/wp/wp-content/uploads/2012/09/Management-of-Myotonic-Dystrophy-2010.pdf
Briemberg H. Neuromuscular diseases in pregnancy. Semin Neurol. 2007; 27: 460-6.
Lacoponi S, Cuerva GM, De la Calle M, Rodríguez GR, González GA. Enfermedad de Steinert y embarazo: caso clínico. Rev Chil Obstet Ginecol [Internet]. 2011 [citado 12 Jul 2013]; 76(4): 257–260. Disponible en: http://www.scielo.cl/pdf/rchog/v76n4/art08.pdf
Rudnik-Schöneborn S, Nicholson GA, Morgan G, Röhrig D, Zerres K. Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus. Am J Med Genet. 1998; 80(4):314-21.
Khan ZA, Khan SA. Myotonic dystrophy and pregnancy. J Pak Med Assoc [Internet]. 2009 [citado 8 Dic 2013]; 59(10): 717-9. Disponible en: http://www.jpma.org.pk/full_article_text.php?article_id=1833
Downloads
How to Cite
Issue
Section
License
Those authors who have publications with this journal accept the following terms of the License CC Attribution-NonCommercial 4.0 International (CC BY-NC 4.0):
You are free to:
- Share — copy and redistribute the material in any medium or format
- Adapt — remix, transform, and build upon the material
- The licensor cannot revoke these freedoms as long as you follow the license terms.
Under the following terms:
- Attribution — You must give appropriate credit , provide a link to the license, and indicate if changes were made . You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- NonCommercial — You may not use the material for commercial purposes .
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
Notices:
You do not have to comply with the license for elements of the material in the public domain or where your use is permitted by an applicable exception or limitation .
No warranties are given. The license may not give you all of the permissions necessary for your intended use. For example, other rights such as publicity, privacy, or moral rights may limit how you use the material.
