Treatment options for congenital myasthenic syndromes
Treatment options for congenital myasthenic syndromes
3,4-DAP: 3,4-diaminopyridine; AChR deficiency: acetylcholine receptor deficiency; CMS: congenital myasthenic syndrome. * Refer to the UpToDate topic and table on diagnostic clues to congenital myasthenic syndromes for details.
Adapted from:
Rodríguez Cruz PM, Palace J, Beeson D. Congenital myasthenic syndromes and the neuromuscular junction. Curr Opin Neurol 2014; 27:566.
Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol 2015; 14:420.
Rodríguez Cruz PM, Palace J, Ramjattan H, et al. Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes. Neurology 2015; 85:1043.
Zhu H, Grajales-Reyes GE, Alicea-Vázquez V, et al. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol 2015; 270:88.
Tsao CY. Effective Treatment of Albuterol in DOK7 Congenital Myasthenic Syndrome in Children. Pediatr Neurol 2016; 54:85.
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