Electrophysiologic Evidence for Anterior Horn Cell Disease in Amyoplasia

John N. Gaitanis, Hugh J. McMillan, Allan Wu, Basil T. Darras*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Amyoplasia is the most common subtype of arthrogryposis multiplex congenita. Children exhibit congenital muscle aplasia or hypoplasia, resulting in symmetric limb contractures that occur in a characteristic pattern. A high incidence of midforehead capillary hemangiomas, micrognathia, and minor genital anomalies also occurs with this disorder. The etiology and specific site of injury in amyoplasia remain unclear. Previous muscle biopsy and electrophysiologic studies could not differentiate between neurogenic or myogenic causes. We describe five children with amyoplasia. Four children demonstrated electrophysiologic features consistent with motor neuronopathy. A careful segmental needle electromyography study revealed variable involvement at different myotomes. We hypothesize that the anterior horn cell may represent the site of disease in a subset of children with amyoplasia.

Original languageEnglish (US)
Pages (from-to)142-147
Number of pages6
JournalPediatric neurology
Volume43
Issue number2
DOIs
StatePublished - Aug 2010
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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