| Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. | |
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MedLine Citation:
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PMID: 19837590 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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U Schara; N Barisic; M Deschauer; C Lindberg; V Straub; N Strigl-Pill; M Wendt; A Abicht; J S Müller; H Lochmüller |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-10-17 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 19 ISSN: 1873-2364 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-11-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 828-32 Citation Subset: IM |
Affiliation:
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Dept. of Pediatric Neurology, University of Essen, Germany. ulrike.schara@uk-essen.de |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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