Miastenia congénita postsináptica por mutaciones en el gen CHRNE: reporte de caso y revisión de literatura

Abstract

Mutations in the CHRNE gene are the most common cause of congenital myasthenia. The neuromuscular junction transmission is impaired by a primary AChR deficiency or an alteration of the kinetic properties of the receptor. We present a case report of a woman with congenital myasthenia, CHRNE mutations and clinical manifestations of AChR primary deficiency. The main symptoms were ophthalmoplegia, eyelid ptosis, fatigable weakness (ocular, bulbar, limb muscles) with partial response to piridostimine and albuterol. Given the above, this study aims to answer the following research question: What are the clinical characteristics and evolution of a patient with congenital myasthenia due to a mutation in the CHRNE gene, treated at the Fundación Santa Fe de Bogotá, during the years 2018- 2019?