title: Salbutamol and ephedrine in the treatment  of severe AChR deficiency syndromes.
abstract: OBJECTIVE
  To evaluate the response to salbutamol and ephedrine in the treatment of congenital myasthenic syndromes due to CHRNE mutations causing severe acetylcholine receptor (AChR)deficiency.
  
  
  METHODS
  A cohort study of 6 patients with severe AChR deficiency, symptomatic despite optimal therapy with anticholinesterase and 3,4-diaminopyridine, were analyzed for their response to the addition of salbutamol or ephedrine to their medication. Baseline quantitative myasthenia gravis (QMG) (severity) scores were worse than 15 of 39. Patients were assessed in clinic with QMG and mobility scores. Pretreatment and 6- to 8-month follow-up scores were evaluated.
  
  
  RESULTS
  All 6 patients tolerated treatment well and reported no side effects. There was a strong positive response to treatment over the 6- to 8-month assessment period with significant improvement in QMG (p = 0.027) and mobility scores. The analysis of subcomponents of the QMG score revealed marked improvement in upper (p = 0.028) and lower (p = 0.028) limb raise times. All patients reported enhanced activities of daily living at 6 to 8 months.
  
  
  CONCLUSIONS
  Oral salbutamol and ephedrine appear to be effective treatments in severe cases ofAChR deficiency on pyridostigmine. They are well tolerated and improvement in strength can be dramatic. Classification of evidence: This study provides Class IV evidence that salbutamol or ephedrine improves muscle strength in patients with congenital myasthenia from severe AChR deficiency.
authors: Pedro M
authors: PM
authors: Rodríguez Cruz
authors: Jacqueline
authors: J
authors: Palace
authors: Hayley
authors: H
authors: Ramjattan
authors: Sandeep
authors: S
authors: Jayawant
authors: Stephanie A
authors: SA
authors: Robb
authors: David
authors: D
authors: Beeson
mesh_terms: D000293:Adolescent; D000328:Adult; D000420:Albuterol / Q000008:administration & dosage*; D015331:Cohort Studies; D004359:Drug Therapy, Combination; D004809:Ephedrine / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000188:drug therapy*; D011950:Receptors, Cholinergic / Q000172:deficiency*; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D011950:Receptors, Cholinergic; D004809:Ephedrine; D000420:Albuterol