Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and dok-7 myasthenia

Teerin Liewluck, Duygu Selcen, Andrew G. Engel

Research output: Contribution to journalArticle

86 Scopus citations

Abstract

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 β 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 β 2-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.

Original languageEnglish (US)
Pages (from-to)789-794
Number of pages6
JournalMuscle and Nerve
Volume44
Issue number5
DOIs
StatePublished - Nov 1 2011

Keywords

  • Albuterol
  • Congenital myasthenic syndrome
  • Dok-7 myasthenia
  • Endplate ache deficiency

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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