Myotonic Dystrophy and Pregnancy

Jaffe, Richard; Mock, Moshe; Abramowicz, Jacques S.; Ben-Aderet, N

doi:10.1097/00006254-198605000-00003

Cited by 40 publications

(22 citation statements)

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“…El porcentaje de preeclampsia está ligeramente aumentado en este tipo de gestaciones (9%) (15,16). Se ha descrito un aumento del riesgo de infección del tracto urinario en estas pacientes a lo largo de la gestación (15)(16)(17). Estas gestaciones están asociadas a un aumento en la incidencia de metrorragia en el segundo y tercer trimestre (15), debido a una placentación anómala (4-9% vs 0,3-0,5% descrito en la población general).…”

Section: Discussionunclassified

Enfermedad de Steinert y embarazo: caso clínico

Iacoponi

Cuerva

et al. 2011

Rev. chil. obstet. ginecol.

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RESUMENLa enfermedad de Steinert es una enfermedad genética que se hereda con un patrón autosómico dominante, resultado de la expansión de la repetición de trinucleótidos CTG gen en el cromosoma 19, que codifica una proteína quinasa. Es una forma grave de distrofia muscular caracterizada por debilidad generalizada y degeneración muscular. El debut puede ocurrir en cualquier momento desde el nacimiento hasta la edad madura. Las complicaciones durante el embarazo son el aborto espontáneo, parto prematuro, el hidramnios, atonía uterina posparto, distocias intraparto y accidentes anestésicos. Presentamos el caso de una gestante de 37 años, asintomática con una anamnesis familiar sin patología de interés. Fue diagnosticada de diabetes gestacional y polihidramnios inespecífico en la semana 30 de embarazo. Acudió a nuestro centro en semana 35 de gestación por dinámica uterina y metrorragia. Se realizó una cesárea extrayéndose un feto masculino, con graves dificultades respiratorias y miotonía generalizada. Posteriormente, el neonato fue diagnosticado de enfermedad congénita de Steinert. El análisis genético de la madre reveló que ella padecía la misma enfermedad. El diagnóstico de enfermedad congénita de Steinert es muy difícil, sobretodo cuando los padres no son conscientes de la enfermedad. Nuestro objetivo es enfatizar en la importancia de una buena anamnesis y los marcadores que se pueden encontrar por ultrasonidos, como hidramnios, reducción del tono fetal y los movimientos activos, artrogriposis, micrognatia, que nos puede proporcionar al menos una sospecha prenatal. PALABRAS CLAVE: Enfermedad de Steinert, polihidramnios, distrofia miotónica, embarazo SUMMARYSteinert´s disease is a genetic condition, which is inherited in an autosomal dominant pattern, result from expansion of CTG trinucleotide repeat gene on chromosome 19, enconding a putative protein kinase. It is a severe form of muscular dystrophy marked by generalised weakness and muscular wasting. The onset can be any time from birth to middle age. The complications during pregnancy are miscarriage, premature labour, hydramnios, atonic postpartum hemorrhage, difficulties during delivery, anesthetic accidents. We report the case of a healthy 37 years old pregnant, with an ordinary family anamnesis. She was diagnosed of gestational diabetes and inespecific polyhydramnios during her 30 week of pregnancy. Due to labour contractions and metrorrhagia in the 35 week she came to our emergency department. She underwent a cesarean section delivery of a male baby, who suffered severe breathing difficulties and generalized myotonia. Afterwards, the baby was diagnosticated with Steinert´s congenital disease. Following genetic analysis of the mother revealed that she also suffers Steinert´s disease. The diagnosis of the congenital Steinert´s disease is really difficult, when the parents are unaware of the disease. Our objective is to emphasize in the REV CHIL OBSTET GINECOL 2011; 76(4): 257 -260

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Section: Discussionunclassified

Enfermedad de Steinert y embarazo: caso clínico

Iacoponi

Cuerva

et al. 2011

Rev. chil. obstet. ginecol.

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“…The risks of myotonic dystrophy and pregnancy are well recorded in terms of risks to the fetus and newborn and mother, such as miscarriages, preterm delivery and neonatal death, and deterioration of myotonic dystrophy in the mother [1] . Marked exacerbation of myotonia and muscle weakness has been reported as a complication in pregnant women with myotonic dystrophy [1] .…”

Section: Discussionmentioning

confidence: 99%

“…Myotonic dystrophy is recognized by a slowly progressive distal myopathy with progressive muscle weakness, atrophy (particularly of the face and neck muscles), and myotonia, or the inability to relax the affected muscles. Systemic involvement of the disease can be quite broad, such as baldness, cataracts, smooth muscle dysfunction, endocrine and reproductive disturbances, and mild mental defi ciencies [1] .…”

Section: Introductionmentioning

confidence: 99%

“…Rhabdomyolysis has been recog-Nasu/Sugano/Yoshimatsu/Narahara Gynecol Obstet Invest 2006;61:53-55 54 ical features. The muscle weakness and myotonia are often aggravated, which leads to obstetrical complications resulting in fetal and neonatal loss, premature delivery, hydrops, polyhydramnios, in-utero death, diffi culties in expulsion, hemorrhage during delivery, and/or anesthetic accidents [1] .…”

Section: Introductionmentioning

confidence: 99%

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Rhabdomyolysis Caused by Tocolysis with Oral Ritodrine Hydrochloride in a Pregnant Patient with Myotonic Dystrophy

Nasu¹,

Sugano²,

Yoshimatsu³

et al. 2006

Gynecol Obstet Invest

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Drug-induced rhabdomyolysis during pregnancy is extremely rare. We report here a rare case of ritodrine-hydrochloride-induced rhabdomyolysis in a pregnant patient with myotonic dystrophy. A 32-year-old primigravida was admitted because of premature labor at 31 weeks of gestation. She had been diagnosed as having myotonic dystrophy by electromyographic investigations and abnormal serum creatinine phosphokinase (CPK) levels. Tocolysis was initiated with oral ritodrine hydrochloride (15 mg/day) alone. There was a prompt response to the ritodrine hydrochloride. Three days after administration began, serum CPK levels had become markedly elevated to 10,897 mg/dl and myoglobinuria was detected (1,800 ng/dl), suggesting the presence of rhabdomyolysis. There was no evidence of worsening of the myotonic symptoms. Tocolysis was stopped immediately, and the laboratory data improved gradually. At 37 weeks of gestation, she spontaneously delivered a healthy male baby. Rhabdomyolysis has been recognized as a complication of tocolytic therapy with ritodrine hydrochloride. Therefore, β-adrenergic agents should be used with great care, especially for patients with myotonic dystrophy, because of these agents’ tendency to aggravate or precipitate myotonia and to induce rhabdomyolysis.

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“…L'hydramnios, le travail prolongé et l'hémorragie du postpartum constituent des complications obstétricales majeures communes qui peuvent survenir en cours de gestation chez ces patientes. Certains auteurs mentionnent que la grossesse peut intensifier la symptomatologie de la maladie chez la femme enceinte (Jaffe et al 1986). …”

Section: / 115 Altérations Du Système Reproducteurunclassified

Évaluation du recours au test génétique chez les personnes à risque de la dystrophie myotonique au Saguenay-Lac-St-Jean

Villeneuve¹

2001

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Myotonic Dystrophy and Pregnancy

Cited by 40 publications

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Enfermedad de Steinert y embarazo: caso clínico

Enfermedad de Steinert y embarazo: caso clínico

Rhabdomyolysis Caused by Tocolysis with Oral Ritodrine Hydrochloride in a Pregnant Patient with Myotonic Dystrophy

Évaluation du recours au test génétique chez les personnes à risque de la dystrophie myotonique au Saguenay-Lac-St-Jean

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