Myotonic dystrophy and pregnancy a report of two cases and a review of the literature

Dufour, P; Bérard, J; Vinatier, D.; Savary, J; Dubreucq, S.; Monnier, Jean-Marie; Puech, F

doi:10.1016/s0301-2115(96)02690-5

Cited by 25 publications

(17 citation statements)

References 15 publications

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“…The clinical signs are skeletal muscle weakness, myotonic stiffness, cardiac muscle involvement and cataracts. The cataracts described in humans are posterior subcapsular and sometimes polychromatic and iridescent, and appear at the age of 25 to 60 years (Dufour et al, 1997;Day et al, 1999). Neither the location and appearance nor the age of onset correspond to our observations.…”

Section: Discussioncontrasting

confidence: 55%

Myotonic dystrophy in two European grey wolves ( Canis lupus )

Pákozdy

Leschnik

Nell

et al. 2007

Acta Veterinaria Hungarica

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Two related European Grey wolves (Canis lupus) with the history of muscle stiffness beginning at 2 weeks of age were examined in this study. Muscle tone and muscle mass were increased in both animals. Muscle stiffness was worsened by stress so that the animals fell into lateral recumbency. Blood chemistry revealed mildly increased serum creatine kinase activity. Abnormal potentials typical of myotonic discharges were recorded by electromyography. Cataract, first-degree atrioventricular (AV) block and inhomogeneous myocardial texture by ultrasound suggested extramuscular involvement. Myopathology demonstrated dystrophic signs in the muscle biopsy specimen. The presumptive diagnosis based on the in vivo findings was myotonic dystrophy. Immunochemistry of the striated muscles revealed focal absence of dystrophin 1 and beta-dystroglycan in both cases. Cardiac and ophthalmologic involvement suggested a disorder very similar to a human form of myotonic dystrophy. This is the first description of myotonic dystrophy in wolves.

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Section: Discussioncontrasting

confidence: 55%

Myotonic dystrophy in two European grey wolves ( Canis lupus )

Pákozdy

Leschnik

Nell

et al. 2007

Acta Veterinaria Hungarica

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“…Según el estudio de Zaki y cols (9), el 62,5% de los fetos afectos presentan esta alteración al nacer y hasta un 68,8% presenta algún tipo de alteración en al menos una de las extremidades. Esto sucede como consecuencia de la miotonía y el polihidramnios (12). Otra alteración que se puede observar bajo control ecográfico, es el descenso de la actividad fetal que a menudo se infravalora.…”

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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“…According to one study, the overall perinatal mortality is 11% [9]. There have been several reports of pregnancy and DM [10][11][12] . Pregnancy is complicated by miscarriage, polyhydramnios, reduced fetal movements, preterm labor, atonic postpartum hemorrhage and anesthetic complications [12,13] .…”

Section: Discussionmentioning

confidence: 99%

Congenital Myotonic Dystrophy

Upadhyay¹,

Thomson

Luckas³

2005

Fetal Diagn Ther

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We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on this pregnancy. Despite being fully aware of the risks, they declined prenatal diagnosis. The pregnancy was monitored by serial ultrasound scans. The diagnosis of CDM was suspected by ultrasound markers of borderline ventriculomegaly, polyhydramnios, and reduced fetal movements. The pregnancy ended prematurely at 33 weeks in an emergency caesarean section because of severe fetal compromise. The neonate died almost immediately after birth. The genetic analysis of cord blood confirmed severe DM. This case highlights the importance of ultrasound markers for the diagnosis of CDM in the absence of definitive prenatal diagnosis.

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Myotonic dystrophy and pregnancy a report of two cases and a review of the literature

Cited by 25 publications

References 15 publications

Myotonic dystrophy in two European grey wolves ( Canis lupus )

Myotonic dystrophy in two European grey wolves ( Canis lupus )

Enfermedad de Steinert y embarazo: caso clínico

Congenital Myotonic Dystrophy

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