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Neuromuscular Disorders in Newborns

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Neonatology

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Abstract

Neuromuscular disorders (NDs) are important causes of neonatal weakness and hypotonia. They are pathogenetically related to primitive disorders of the motor unit. They can be acquired or genetically determined, and inherited according to various models of inheritance. NDs with neonatal onset have great clinical variability in severity ranging from fatal to mild pictures. Weakness, generalized or localized to a peculiar district (i.e., facial muscles), and hypotonia are cardinal features. Diagnostic workup includes serum creatine kinase level analysis, motor nerve conduction investigation, electromyography, and muscle biopsy. In neonates indications for muscle biopsy should be carefully evaluated as several limitations there exist. It could be considered in those patients in whom diagnosis is still lacking in spite of several laboratory investigations.

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Authors and Affiliations

  1. Department of Molecular Medicine and Development, University of Siena, Siena, Italy

    Salvatore Grosso & Silvia Ferranti

Authors
  1. Salvatore Grosso
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  2. Silvia Ferranti
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Correspondence to Salvatore Grosso .

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Editors and Affiliations

  1. Department of Pediatrics Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy

    Giuseppe Buonocore

  2. Department of Pediatrics Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy

    Rodolfo Bracci

  3. Liverpool Women’s Hospital Neonatal Unit, Liverpool, UK

    Michael Weindling

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Grosso, S., Ferranti, S. (2018). Neuromuscular Disorders in Newborns. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-29489-6_281

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  • DOI: https://doi.org/10.1007/978-3-319-29489-6_281

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-29487-2

  • Online ISBN: 978-3-319-29489-6

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