title: Neonatal hypotonia.
abstract: Neonatal hypotonia is a common problem in the neonatal intensive care unit. The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be challenging. It is important for the neonatologist to have an organized approach to the assessment of neonatal hypotonia. Physical examination and history alongside basic laboratory testing and imaging aid in the differential diagnosis. Identification of the cause is essential for determining prognosis, associated morbidities, and recurrence risk. The prevailing therapeutic modality is physical, occupational, speech/feeding, and respiratory therapy.
authors.affiliation: Department of Pediatrics, Carolinas Healthcare System, 1000 Blythe Boulevard, Charlotte, NC 28203, USA. Electronic address: Susan.sparks@carolinashealthcare.org.
authors.forename: Susan E
authors.initials: SE
authors.lastname: Sparks
mesh_terms: D003937:Diagnosis, Differential; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics
keywords: Congenital; Hypotonia; Muscular dystrophy; Myotonia; Syndrome; Weakness