Congenital Myotonic Dystrophy

Campbell, Craig

doi:10.4172/2155-9562.s7-001

Cited by 8 publications

(10 citation statements)

References 94 publications

(138 reference statements)

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“…It presents at birth or during the first year after birth (1, 2). In the neonatal period, mortality is high with a rate of 17% to 41%.…”

Section: Discussionmentioning

confidence: 99%

“…CMD is a multisystem disorder characterized by neonatal hypotonia, joint contractures, facial diplegia, fatal respiratory failure, feeding problems, cardiac conduction abnormalities, and developmental delay ( 1 , 6 ). It presents at birth or during the first year after birth ( 1 , 2 ). In the neonatal period, mortality is high with a rate of 17% to 41%.…”

Section: Discussionmentioning

confidence: 99%

“…Cardiac involvement displays the following: conduction system disturbances, atrial and ventricular arrhythmias, hypertrophic cardiomyopathy, and sudden cardiac death (2, 3, 4). In patients with CMD, conduction disturbances including atrioventricular (AV) block generally occur during adulthood (5).…”

Section: Introductionmentioning

confidence: 99%

“…Congenital myotonic dystrophy (CMD) is an autosomal dominant neuromuscular disorder with major features including muscular hypotonia, respiratory failure, feeding problems, developmental delay, and less commonly systemic involvement including congenital cataract, thyroid dysfunction, and abnormal cardiac manifestation ( 1 , 2 ). Cardiac involvement displays the following: conduction system disturbances, atrial and ventricular arrhythmias, hypertrophic cardiomyopathy, and sudden cardiac death ( 2 , 3 , 4 ). In patients with CMD, conduction disturbances including atrioventricular (AV) block generally occur during adulthood ( 5 ).…”

Section: Introductionmentioning

confidence: 99%

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Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report

Kim

Cho

et al. 2014

J Korean Med Sci

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Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31+4 weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.Graphical Abstract

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“…It presents at birth or during the first year after birth (1, 2). In the neonatal period, mortality is high with a rate of 17% to 41%.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report

Kim

Cho

et al. 2014

J Korean Med Sci

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“…Patients with CMD present with severe hypotonia, talipes equinovarus, artrogryposis, weakened weeping and sucking, and respiratory failure. Congenital cataracts, thyroid dysfunction, and cardiac involvement are also seen among cases with CMD, but more rarely [1,2]. CMD develops as a result of the repetition of the myotonic dystrophy protein kinase (DMPK) gene in chromosome 19q13 due to the increased cytosine-thymine-guanine (CTG) trinucleoid in the 3' untranslated region.…”

Section: Introductionmentioning

confidence: 99%

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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