title: Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
abstract: BACKGROUND
  Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most 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.
  
  
  CONCLUSIONS
  Our observations should spur controlled, prospective clinical trials of albuterol in these as well as other CMS.
authors.affiliation: Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, Minnesota 55905, USA.
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Duygu
authors.initials: D
authors.lastname: Selcen
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
mesh_terms: D000110:Acetylcholinesterase / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D000420:Albuterol / Q000494:pharmacology / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009045:Motor Endplate / Q000187:drug effects / Q000201:enzymology* / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: C511692:DOK7 protein, human; D009124:Muscle Proteins; D000110:Acetylcholinesterase; D000420:Albuterol