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

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dc.contributor.authorGultekin, Nazli Dilay
dc.contributor.authorYilmaz, Fatma Hilal
dc.contributor.authorAltunhan, Huseyin
dc.contributor.authorOrs, Rahmi
dc.date.accessioned2024-02-23T14:40:46Z
dc.date.available2024-02-23T14:40:46Z
dc.date.issued2017
dc.departmentNEÜen_US
dc.description.abstractCongenital 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.en_US
dc.identifier.doi10.4328/JCAM.4997
dc.identifier.endpage60en_US
dc.identifier.issn1309-0720
dc.identifier.issn1309-2014
dc.identifier.startpage58en_US
dc.identifier.urihttps://doi.org/10.4328/JCAM.4997
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16567
dc.identifier.volume8en_US
dc.identifier.wosWOS:000435637400009en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherDerman Medical Publen_US
dc.relation.ispartofJournal Of Clinical And Analytical Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCongenital Myotonic Dystrophiaen_US
dc.subjectHypotonic Infanten_US
dc.subjectPolyhydramniosen_US
dc.subjectDysmorphic Faceen_US
dc.subjectRespiratory Failureen_US
dc.titleFrom the Symptoms of an Undiagnosed Mother to the Infant with Congenital Myotonic Dystrophyen_US
dc.typeArticleen_US

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