Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome

Zaki, Mona M.; Boyd, PatriciaA.; Impey, Lawrence; Roberts, A; Chamberlain, P.

doi:10.1002/uog.3859

Cited by 65 publications

(55 citation statements)

References 8 publications

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“…Comparing women with DM1 and DM2, pre-eclampsia was more common in DM2 (13.6% vs 9.5%), while polyhydramnios (25% vs 0.0%) and pre-term labor (31.0% vs 13.6%) were more common in DM1 (Table 2). Polyhydramnios has been specifically associated with congenital DM, which may explain why this is only reported in women with DM1 [14]. …”

Section: Resultsmentioning

confidence: 99%

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Johnson

Hung

Nasser

et al. 2015

Journal of Neuromuscular Diseases

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Background:The rate of symptom progression during pregnancy in myotonic dystrophy (DM) is not currently known. Further, there is little data regarding the rate of pregnancy complications and neonatal outcomes in DM.Objective:This study assesses symptom progression and complication rates during pregnancy in women with DM.Methods:DM women completed surveys regarding their prior pregnancies. Participants identified complications during their pregnancies and completed the Myotonic Dystrophy Health Index-Short Form (MDHI-SF) to measure their disease burden and identify the severity of select symptoms six-months prior to, during, and six-months after their first pregnancy.Results:152 women with DM reported on 375 pregnancies. Among these pregnancies, there was a 32.5% miscarriage rate. Some complications were common including: pre-term labor (27.8%), pre-eclampsia (10.4%), and peripartum hemorrhage (13.9%). Participants’ perception of their mobility and ability to perform activities, as measured by the MDHI-SF, worsened during pregnancy and did not recover during the post-partum period.Discussion:Miscarriage, maternal disease progression during pregnancy, and other pregnancy related complications may occur in DM. Women with DM should be counseled on these potential risks prior to considering pregnancy.

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Section: Resultsmentioning

confidence: 99%

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Johnson

Hung

Nasser

et al. 2015

Journal of Neuromuscular Diseases

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“…The prenatal manifestations of CDM may include reduced fetal movement, polyhydramnios, and ultrasound findings of talipes equinovarus or borderline ventriculomegaly. 30 At birth the cardinal features are neonatal hypotonia and feeding or respiratory difficulty. A prospective study found that 79% of infants required nasogastric feeding and 53% required transient or prolonged ventilatory support.…”

Section: Congenital Dm1 (Cdm)mentioning

confidence: 99%

Myotonic Dystrophy

2014

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Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. Myotonic dystrophy type 1 (DM1) was first described over a century ago. DM1 is caused by expansion of a CTG triplet repeat in the 3' non-coding region of DMPK, the gene encoding the DM protein kinase. More recently a second form of the disease, myotonic dystrophy type 2 (DM2) was recognized, which results from repeat expansion in a different gene. The DM2 expansion involves a CCTG repeat in the first intron of Zinc Finger 9 (ZNF9). Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. Studies suggest that the shared clinical features of DM1 and DM2 involve a novel genetic mechanism in which repetitive RNA exerts a toxic effect. The RNA toxicity stems from the expanded repeat in the transcripts from the mutant DM alleles. This chapter will review the clinical presentation and pathophysiology of DM, and discuss current management and future potential for developing targeted therapies.

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“…La DM1 congénita, en especial cuando la madre está levemente afectada, se diagnostica muy raramente intraútero, a pesar de que existen alteraciones a la exploración ecográfica que podrían orientar hacia el diagnóstico (9).…”

Section: Discussionunclassified

“…La alteración ecográfica más frecuente es el polihidramnios que se observa en más del 90% de los casos entre la semana 28 y 34 (9). El polihidramnios es la consecuencia de una reducción o ausencia de la deglución fetal secundaria a una motilidad faringo-esofágica disminuida y a un enlentecimiento del vaciado gástrico (11).…”

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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Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome

Abstract: Objective The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1). Methods

Cited by 65 publications

References 8 publications

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Myotonic Dystrophy

Enfermedad de Steinert y embarazo: caso clínico

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