Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations

Menachem Sadeh*, Ilan Blatt, Yochanan Goldhammer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Six patients with a newly described genetic syndrome in Iraqi and Iranian Jews of congenital myasthenia associated with facial malformations were studied with voluntary and stimulation single fiber EMG (SFEMG). Voluntary SFEMG revealed abnormal jitter in all patients in both extensor digitorum communis (EDC) and orbicularis oculi (OOC) muscles, though much smaller in the clinically unaffected EDC. SFEMG study of OOC muscle by axonal stimulation at rates from 1 to 48 Hz showed the most increased jitter at the highest stimulation frequencies in the majority of end‐plates, one‐third of which showed maximal jitter at intermediate rates. These results may suggest a postsynaptic abnormality as the underlying cause for the neuromuscular transmission defect, and demonstrate the usefulness of SFEMG in the diagnosis of congenital myasthenia. © 1993 John Wiley & Sons, Inc.

Original languageEnglish
Pages (from-to)177-180
Number of pages4
JournalMuscle and Nerve
Volume16
Issue number2
DOIs
StatePublished - Feb 1993

Keywords

  • congenital myasthenia
  • motor end‐plates
  • neuromuscular transmission
  • single fiber EMG
  • stimulation single fiber EMG

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