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Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

By Massimiliano De Vivo, Silvana Rojo, Roberto Rosso, Giovanni Chello and Paolo Giliberti

Abstract

<p>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.</p

Topics: floppy infant, weakness, neonatal hypotonia, myotubular myopathy, newborn onset, central and peripheral hypotonia, Medicine, R, Pediatrics, RJ1-570
Publisher: Hygeia Press di Corridori Marinella
Year: 2014
DOI identifier: 10.7363/030114
OAI identifier: oai:doaj.org/article:e254bcbf699a4955b8ad80b641a1efc1
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