Skeletal Muscle and Peripheral Nerves

  • Nicholas D. MantonEmail author


Neuromuscular disorders in the fetus and neonate are rare and diverse with overlapping clinical features and genetic causes. Presentation typically is with contractures alone or with additional features such as hydrops, pulmonary hypoplasia, and cleft palate constituting the fetal akinesia syndrome. Neonates may also present with congenital hypotonia. These disorders include amyoplasia, spinal muscular atrophies, congenital myopathies, the congenital muscular dystrophies, congenital myasthenic syndromes, metabolic myopathies, and inherited peripheral neuropathies. A thorough, multidisciplinary approach is required to the diagnosis of these disorders and is described at the end of this chapter along with the approach to the perinatal neuromuscular autopsy.


Skeletal muscle Peripheral nerves Neuromuscular disorders Fetus Neonate Congenital Diagnosis Autopsy 


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Copyright information

© Springer International Publishing 2015

Authors and Affiliations

  1. 1.Department of Anatomical PathologySA Pathology at the Women’s and Children’s HospitalAdelaideAustralia

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