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Lookup NU author(s): Dr Paulo Lorenzoni, Dr Amina Chaouch, Professor Hanns Lochmuller
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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 2 mg 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 degrees 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. (C) 2013 Elsevier B.V. All rights reserved.
Author(s): Lorenzoni PJ, Scola RH, Kay CSK, Filla L, Miranda APP, Pinheiro JMR, Chaouch A, Lochmuller H, Werneck LC
Publication type: Article
Publication status: Published
Journal: Journal of the Neurological Sciences
Year: 2013
Volume: 331
Issue: 1-2
Pages: 155-157
Print publication date: 18/06/2013
ISSN (print): 0022-510X
ISSN (electronic): 1878-5883
Publisher: Elsevier BV
URL: http://dx.doi.org/10.1016/j.jns.2013.05.017
DOI: 10.1016/j.jns.2013.05.017
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