Journal
NEUROMUSCULAR DISORDERS
Volume 19, Issue 12, Pages 828-832Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2009.09.008
Keywords
Congenital myasthenic syndrome; Synaptopathy; Downstream-of-kinase-7; DOK7; Ephedrine therapy
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Funding
- German Ministry of Education and Research [01 GM0601]
- Deutsche Forschungsgemeinschaft [MU2840/1-1, AbI 30/2-1]
- Medical Research Council [G0601943B] Funding Source: researchfish
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In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar symptoms and/or respiratory distress. Ephedrine was started with 25 mg/day and slowly increased to 75-100 mg/day. Within weeks after starting therapy an improvement was observed in all patients and clinical follow-up disclosed positive effects more pronounced on proximal muscle weakness and strength using MRC scale. Effects on facial weakness were less pronounced. Vital capacity measurements and repetitive stimulation tests did not improve in the same way as clinical symptoms did. These investigations are appropriate to confirm the diagnosis in case of pathological results, but they might not be appropriate means to monitor patients under ephedrine therapy. (C) 2009 Elsevier B.V. All rights reserved.
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