BENEFICIAL EFFECTS OF ALBUTEROL IN CONGENITAL ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY AND Dok-7 MYASTHENIA

Introduction: Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most syndromes of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow-channel syndrome, Dok-7 myasthenia, and beta(2)-laminin deficiency, and is not useful in CMS due to defects in muscle-specific kinase (MuSK), agrin, and plectin. EP AChE, Dok-7, and b2-laminin deficiencies respond favorably to ephedrine, but ephedrine can no longer be prescribed in the USA. Methods: We used albuterol, another sympathomimetic agent, to treat 3 patients with EP AChE deficiency and 15 with Dok-7 myasthenia. Response to therapy was evaluated by a 9-point questionnaire pertaining to activities of daily life. Results: Comparison of the pre- and posttreatment responses indicated a beneficial response to albuterol (P < 0.001) in both patient groups. The adverse effects of therapy were like those of ephedrine. Conclusion: Our observations should spur controlled, prospective clinical trials of albuterol in these as well as other CMS. Muscle Nerve 44: 789-794, 2011