Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19.


Introduction: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in five patients with Dok-7 CMS.

Methods: We studied 5 patients (2 male and 3 female), with a mean age of 27±11.06 years, who harbored c.1124_1127dupTGCC, p.G64R and/or p.S45L mutations in DOK7 gene. Salbutamol was given at a dose of 2mg three times daily (6 mg/day) to all patients. The response was assessed by QMG score at baseline, 3, 6, 9 and 12 months; ADL-MG score and 6 minute walk test at baseline and after 12 months during follow-up clinic visits. Side effect profile of salbutamol was also evaluated.

Results: We noted an increasingly positive response as measured by the QMG score after 3 months of salbutamol treatment. Improvement in specific subcomponents of the QMG score such as leg outstretched in 45° supine was most marked. In ADL-MG scores and 6 minute walk test, comparison between baseline and after 12 months revealed a clear beneficial response. Salbutamol was well tolerated in all patients.

Conclusions: Salbutamol is an effective treatment in Dok-7 CMS. This study provides class IV evidence that salbutamol given at a dose 6 mg/day improves function as measured by the QMG score, ADL-MG score and 6 minute walk test.

Keywords: 6MWT; 6minute walk test; ADL-MG; Albuterol; CMS; CMS related to Dok-7 deficiency; Congenital myasthenic syndromes; DOK7 mutation; Dok-7 CMS; Limb-girdle congenital myasthenic syndrome; QMG; Salbutamol; Treatment; congenital myasthenic syndromes; myasthenia gravis activities of daily living; quantitative myasthenia gravis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenergic beta-2 Receptor Agonists / therapeutic use*
  • Adult
  • Age Factors
  • Albuterol / therapeutic use*
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / drug therapy*
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / physiopathology
  • Neurologic Examination
  • Young Adult


  • Adrenergic beta-2 Receptor Agonists
  • DOK7 protein, human
  • Muscle Proteins
  • Albuterol