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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

LORENZONI, Paulo José et al. Neurophysiological study in slow-channel congenital myasthenic syndrome: case report. Arq. Neuro-Psiquiatr. [online]. 2006, vol.64, n.2a, pp.318-321. ISSN 0004-282X.  http://dx.doi.org/10.1590/S0004-282X2006000200028.

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.

Keywords : slow-channel; congenital myasthenic syndromes; compound muscle action potential; repetitive nerve stimulation.

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