The Genetic Approach to Hypotonia in the Neonate


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… (More)


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@inproceedings{Hudgins2009TheGA, title={The Genetic Approach to Hypotonia in the Neonate}, author={Louanne M. Hudgins and N. Ghavi Hossein - Zadeh}, year={2009} }