Myasthenic Syndrome, Congenital, 4B, Fast-Channel

Alternative Names

  • CMS4B
Back to search Result
WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

616324

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17p13.2

Description

Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616324.1Saudi ArabiaMale Bilateral ptosis; Ophthalmoplegia; Fatig...NM_000080.4:c.1197_1198dupHomozygousAutosomal, RecessiveMonies et al. 2017
© CAGS 2024. All rights reserved.