Affiliation:
1. Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, Calif
Abstract
Numerous genetic syndromes present with hypotonia during the neonatal period, including Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy, congenital muscular dystrophies, nemaline myopathy, congenital hypomyelinating neuropathy, congenital disorders of glycosylation, and Pompe disease. This article reviews neonatal presentations and appropriate diagnostic tests and examinations for each. Awareness of possible underlying genetic causes for neonatal hypotonia can aid physicians in general pediatric practice, neonatology, and other specialties in making a timely diagnosis for what may be considered rare conditions. Furthermore, early diagnosis allows for improved management of affected infants while providing invaluable information to their families with respect to potential recurrence risks in future generations.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology, and Child Health
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