Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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Familial congenital myopathy with prominent decremental responses in repetitive nerve stimulation testing

  • Kim, Dayoung (Department of Neurology, Konkuk University School of Medicine) ;
  • Sunwoo, Il Nam (Sunwoo and Cho Neurology Clinic) ;
  • Oh, Jeeyoung (Department of Neurology, Konkuk University School of Medicine)
  • Received : 2020.10.26
  • Accepted : 2020.12.15
  • Published : 2021.04.30
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Abstract

Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.

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References

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