Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by Mutations.

BACKGROUND

Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase () is the second-most common cause of CMS. However, data on pharmacological treatments are limited.

OBJECTIVE

In this study, we reviewed related reports to determine the most appropriate pharmacological strategy for CMS caused by mutations. A literature review and meta-analysis were also performed. PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched to identify studies published in English before July 22, 2022.

RESULTS

A total of 42 studies including 164 patients with CMS due to 72 different mutations were selected for evaluation. Most studies were case reports, and none were randomized clinical trials. Our meta-analysis revealed evidence that β-adrenergic agonists, including salbutamol and ephedrine, can be used as first-line pharmacological treatments for CMS patients with mutations, as 98.7% of patients (74/75) treated with β-adrenergic agonists showed positive effects. In addition, AChEIs should be avoided in CMS patients with mutations, as 90.5% (105/116) of patients treated with AChEIs showed either no or negative effects.

CONCLUSION

(1) β-adrenergic agonist therapy is the first pharmacological strategy for treating CMS with mutations. (2) AChEIs should be avoided in patients with CMS with mutations.