Congenital myasthenic syndromes: beta adrenergic receptor agonist treatment

Abstract

Acetylcholinesterase inhibitors, such as pyridostigmine, are the standard symptomatic treatment for myasthenia gravis, and so have naturally been applied to the genetic forms of myasthenia, termed congenital myasthenic syndromes (CMS). Although effective for many CMS in others there was no clear response and in some it was positively harmful. Now, with greater understanding of the mutations and molecular mechanisms underlying CMS, treatments can be tailored for the specific syndrome and depending on diseases severity and patient response this can include utilizing different combinations of the drugs. In CMS, over the last 15-20 years b2-adrenergic receptor agonists have moved from occasional use to a mainstream medication. Many cases show life-transforming improvement both when the b2-adrenergic receptor agonists are used alone or in combination. Here we feature how the identification of DOK7-CMS first highlighted the consistent benefit of b2-adrenergic receptor agonists as medication and how it’s application to many different CMS subtypes evolved. The molecular pathogenic mechanisms for many CMS subtypes are now established and this report will also discuss a hypothetical rationale for which forms of CMS are likely to benefit from the b2-adrenergic receptor agonists.