Myotonic dystrophy is a significant cause of idiopathic polyhydramnios

Esplin, M. Sean; Hallam, Simon; Farrington, P.; Nelson, Lesa; Byrne, Janice L. B.; Ward, Kenneth

doi:10.1016/s0002-9378(98)70200-5

Cited by 31 publications

(31 citation statements)

References 9 publications

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“…In a study, Esplin et al assumed MD as an important cause in idiopathic polyhydramnios. In cases with idiopathic polyhydramnios and fetal swallowing dysfunction, myopathy due to X linked myopathy, congenital myotonic dystrophy, and congenital myopathy are three neuromuscular disorders to be ruled out [7]. In our patient, the history of polyhydramnios also drew attention to such an association, and such signs as the dysarthria detected in the mother, masklike face, marked muscle weakness increasing with pregnancy, and fatigue were the guiding lights for the diagnostic approach to the infant.…”

Section: Discussionmentioning

confidence: 74%

From the Symptoms of an Undiagnosed Mother to the Infant with Congenital Myotonic Dystrophy

2017

Ann Clin Anal Med

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ÖzKonjenital myotonik distrofi (KMD) neonatal dönemde, hipotoni, respiratuar yetmezlik ve beslenme problemleri ile bulgu veren klinik spektrumu geniş bir hastalıktır. Aile öyküsü tanıda önemli olmakla birlikte neonatal dönemde bebeğin tanı alması annenin ya da nadiren babanın tanı almasını sağlayabilir. Burada neonatal dönemde hipotonisite ve solunum yetmezliği ile prezente olan erkek hastada, annenin halsizlik, kas ağrısı ve çok uyuma şikayetlerinden yola çıkılarak genetik analizle KMD tanısına varıldı. Vakamızda olduğu gibi, hipotonik bebeklerde yalnızca aile öyküsünün derinleştirilerek KMD tanısının daha erken konabileceği akıl-da tutulmalıdır. Anahtar KelimelerKonjenital Myotonik Distrofi; Hipotonik İnfant; Polihidroamniyoz; Dismorfik Yüz; Solunum Yetmezliği Abstract Congenital myotonic dystrophia (CMD) is a disorder with a wide clinical spectrum, characterized by hypotonia, respiratory failure, and nutritional challenges in the neonatal period. Although familial history is important in the diagnostic process, diagnosing the infant in the neonatal period may, conversely, lead the mother, or rarely the father, to be diagnosed. Here, a male infant presenting with hypotonicity and respiratory failure in the neonatal period was diagnosed with CMD through genetic testing by looking at the complaints of fatigue, muscle pain, and hypersomnia in the mother. As in our case, it should be kept in mind that CMD can be diagnosed at an early stage only by focusing on the familial history in hypotonic infants.

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Section: Discussionmentioning

confidence: 74%

From the Symptoms of an Undiagnosed Mother to the Infant with Congenital Myotonic Dystrophy

2017

Ann Clin Anal Med

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“…In the absence of defi nitive prenatal genetic diagnosis, the condition can be suspected by certain ultrasound markers, namely altered fetal movements, polyhydramnios, and ventriculomegaly. DM is a signifi cant cause of idiopathic polyhydramnios and should be considered as part of the differential diagnosis in these cases [8]. Prenatal ventricular dilatation is reported to be present in up to 80% cases of CDM [15][16][17][18].…”

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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“…These manifestations have also been noted in conjunction with myotonic dystrophy [2]. Though myotonic dystrophy and CFTD present similarly in the neonatal period [5], in the prenatal period, CFTD is rarely considered in the differential diagnosis of hydramnios and clubfoot.…”

Section: Discussionmentioning

confidence: 99%

“…Clubfoot has also been described in association with multiple congenital abnormalities including hydrolethalus syndrome, myotonic dystrophy [2], and trisomy 18 [1,3]. Many of these conditions have also been associated with hydramnios [2,3].…”

Section: Introductionmentioning

confidence: 99%