From the Symptoms of an Undiagnosed Mother to the Infant with Congenital Myotonic Dystrophy
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Derman Medical Publ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Congenital Myotonic Dystrophia, Hypotonic Infant, Polyhydramnios, Dysmorphic Face, Respiratory Failure
Kaynak
Journal Of Clinical And Analytical Medicine
WoS Q Değeri
Scopus Q Değeri
Cilt
8
