J Korean Soc Neonatol.
2002 Nov;9(2):204-210.
A Case of Congenital Myotonic Dystrophy
- Affiliations
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- 1Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. ranng@yumc.yonsei.ac.kr
- 2Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea.
- 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
Abstract
- Congenital myotonic dystrophy is an almost always maternally-inherited autosomal dominant multisystem disorder of variable clinical expressions characterized by hypotonia and frequent respiratory distress at birth. The muscle weakness may be so severe, it may lead to death in the newborn period. We report a case of congenital myotonic dystrophy in a 34 weeks of gestational age premature infant born to a mother with polyhydramnios, presenting with hypotonia, respiratory insufficiency, feeding difficulties and arthrogryposis. A brief review of literature is given.
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