Story perspectives

Cholinesterase Inhibitors: Not a Universal Solution for CMS

3/19/2026

Summary

Story summary

Cholinesterase inhibitors, including pyridostigmine and neostigmine, treat Congenital Myasthenic Syndromes (CMS) but are not universally effective.
ChEIs are contraindicated in COLQ-CMS and LAMB2-CMS due to risk of respiratory arrest.
ChEIs may worsen symptoms in SCCMS, AGRN-CMS, LRP4-CMS, and MUSK-CMS.
?-adrenergic agents, like ephedrine and salbutamol, and other drugs such as amifampridine and fluoxetine, are used.
Reasons for ChEIs’ ineffectiveness in some CMS forms linked to defective AChR clustering remain unclear.

1 of 1

Story summary

Cholinesterase inhibitors, including pyridostigmine and neostigmine, treat Congenital Myasthenic Syndromes (CMS) but are not universally effective.
ChEIs are contraindicated in COLQ-CMS and LAMB2-CMS due to risk of respiratory arrest.
ChEIs may worsen symptoms in SCCMS, AGRN-CMS, LRP4-CMS, and MUSK-CMS.
?-adrenergic agents, like ephedrine and salbutamol, and other drugs such as amifampridine and fluoxetine, are used.
Reasons for ChEIs’ ineffectiveness in some CMS forms linked to defective AChR clustering remain unclear.