Congenital myotonic dystrophy with asymptomatic mother
Publication Type:Journal Article
Source:Indian Pediatrics, Volume 48, Number 7, p.565-567 (2011)
Keywords:arm muscle, article, asymptomatic disease, autosomal dominant disorder, Blotting, breech presentation, case report, cataract, cesarean section, diaphragm disease, DNA, DNA determination, downward palpebral slant, Electromyography, Fathers, female, heterozygosity, human, Humans, hydramnios, infant, karyotype 46, leg muscle, low set ear, male, microcephaly, mother, Mothers, myotonia, myotonic dystrophy, neonatal respiratory distress syndrome, neuromuscular disease, newborn, newborn intensive care, palpebral fissure anomaly, physical examination, pleiotropy, Premature, Prognosis, Southern, Southern blotting, thenar, tongue, trinucleotide repeat, XX
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
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