Abstract Details

Title Albuterol Treatment in Congenital Myastenic Syndrome with Dok-7 Mutation: An Open Prospective Study

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P02 - (-)

Poster/Presentation
Number 199

Objective

Background BACKGROUND: Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases which can have different management in specific subgroups. In CMS related to Dok-7 deficiency (Dok-7 CMS), treatment can be accomplished with cholinesterase inhibitors, or according to the response, associate at 3-4 DAP. The ephedrine can be used in the treatment of Dok-7 CMS, but it cannot be prescribed in USA. Albuterol, or salbutamol, is a selective B2-adrenergic agonist, which was previous described associated with improvement of Dok-7 CMS. However, more prospective studies are necessary to determinate the most effective dosing regimen and long-term response.

Design/Methods DESIGN/METHODS: Albuterol was prescribed at dose of 2 mg three times daily (6mg/day) for all patients. The response was assessment by QMG score at baseline, 3, 6, 9 and 12 months; ADL-MG score and 6 minutes walking test at baseline and after 12 months in follow-up clinic visits. Tolerance to albuterol was evaluated.

Results RESULTS: The sample population consisted of 5 patients (2 male and 3 female), with a mean age of 27 + 11.06 years, who presented CMS with c.1124_1127dupTGCC and/or p.S45L mutations in DOK7 gene. We noted a progressive response to treatment in QMG score since 3 months of albuterol treatment. In ADL-MG scores and 6 minutes walking test, comparison between baseline and after 12 months reveals an important beneficial response to albuterol treatment. The side effects of albuterol were well tolerated in all patients.

Conclusions CONCLUSIONS: Albuterol was an effective treatment to Dok-7 CMS. This study provides class IV evidence that albuterol given at dose 6 mg/day improves measured by the QMG score, ADL-MG score and 6 minutes walking test. The dose of albuterol was well-tolerated and lesser than previous described to treat patients with Dok-7 CMS.

Authors/Disclosures
Paulo J. Lorenzoni, MD (Neurology - Hospital De Clinicas - UFPR) PRESENTER	Dr. Lorenzoni has nothing to disclose.
Jennie Medin	No disclosure on file
Rosana H. Scola, MD (Hospital De Clinicas, Departamento De Neurolog)	Dr. Scola has nothing to disclose.
Claudia S. Kay, MD	Dr. Kay has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Hanns Lochmuller, MD, FAAN (Childrens Hospital of Eastern Ontario)	Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving as a Consultant for CCRM. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Canada Inc. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Satellos. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for KYE Pharma. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Lochmuller has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Satellos. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi US. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Santhera. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Precision. Dr. Lochmuller has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis.
Lineu C. Werneck, MD (Universidade Federal do Parana)	No disclosure on file

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