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 (COLQ) 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 COLQ 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
COLQ 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 COLQ 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 COLQ mutations, as 90.5%
(105/116) of patients treated with AChEIs showed no or negative effects.
Conclusion:
(1) β-adrenergic agonist therapy is the first pharmacological strategy for
treating CMS with COLQ mutations. (2) AChEIs should be avoided in patients with
CMS with COLQ mutations.
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