[Neurophysiological study in slow-channel congenital myasthenic syndrome: case report]

Arq Neuropsiquiatr. 2006 Jun;64(2A):318-21. doi: 10.1590/s0004-282x2006000200028. Epub 2006 Jun 9.
[Article in Portuguese]

Abstract

The slow-channel syndrome is one of the congenital myasthenic syndromes attributed to inherited kinetic disorders of the ion channel of the acetylcholine receptor of the neuromuscular junction. This is a case report of 25-years-old man with progressive ptosis and limitation of ocular movements since infancy, presented a 6-years history of worse of the external ophthalmoparesis and muscular weakness in the shoulders and hands. The motor nerve conduction studies after a supramaximal single stimulus disclosed a double compound muscle action potential (CMAP) that disappeared after a voluntary contraction of 30 seconds. Repetitive stimulation of facial and spinal accessory nerves showed a CMAP decrement greater than 10% with disappeared of the second potential. The patient received fluoxetine with mild improvement of muscular weakness, but persisted with: ptosis, limitation of ocular movements and repetitive CMAP in the motor nerve conduction study. The characteristic of disease are discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Action Potentials / physiology*
  • Adult
  • Electric Stimulation
  • Electromyography
  • Electrophysiology
  • Fluoxetine / therapeutic use
  • Humans
  • Male
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / drug therapy
  • Myasthenic Syndromes, Congenital / physiopathology*
  • Neural Conduction / physiology*
  • Neuromuscular Junction / physiopathology
  • Selective Serotonin Reuptake Inhibitors / therapeutic use

Substances

  • Serotonin Uptake Inhibitors
  • Fluoxetine