From the symptoms of an undiagnosed mother to the infant with congenital myotonic dystrophy: A Case Report

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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