Keywords
floppy infant
weakness
neonatal hypotonia
myotubular myopathy
newborn onset
central and peripheral hypotonia
weakness
neonatal hypotonia
myotubular myopathy
newborn onset
central and peripheral hypotonia
How to Cite
De Vivo, M., Rojo, S., Rosso, R., Chello, G., & Giliberti, P. (2014). Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 3(1), e030114. https://doi.org/10.7363/030114
Abstract
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility. Strictly speaking, the term “floppy” should be used to describe a form of hypotonia. In our case the clinical and molecular study of a rare form (1:50.000) of X-Linked Myotubular Myopathy (X-Linked MM), with an early onset of peripheral hypotonia, led us to develop a general protocol for the differential diagnosis of neonatal hypotonia.