COLQ and hyperinsulinemic hypoglycemia, familial, 4: Although pyridostigmine is routinely used for acquired myasthenia gravis and recessive ACHE mutations that cause CMS, this treatment is not usually effective in CMS resulting from COLQ or DOK7 mutations, and may worsen symptoms.23 In addition, there are varied responses to other treatments, such as salbutamol.24 Of particular relevance to PaVe-GT, preclinical POC studies have been published supporting the use of AAV gene therapy in a mouse model of DOK7 deficiency,25 and a COLQ knockout animal model is available.26