Albuterol Treatment in Congenital Myastenic Syndrome with Dok-7 Mutation: An Open Prospective Study (IN1-1.002) (original) (raw)

2013

Abstract

OBJECTIVE: This was an open prospective study to determined clinical response to albuterol in Dok-7 CMS. 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: 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: 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: 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. Disclosure: Dr. Lorenzoni has nothing to disclose. Dr. Scola has received personal compensation for activities with Merck Serono as scientific advisor board. Dr. Kay has nothing to disclose. Dr. Paranhos has nothing to disclose. Dr. Pinheiro has nothing to disclose. Dr. Filla has nothing to disclose. Dr. Lochmuller has nothing to disclose. Dr. Werneck has nothing to disclose.

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