کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
946233 | 1475610 | 2008 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Therapeutic Strategies in Congenital Myasthenic Syndromes
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Therapeutic Strategies in Congenital Myasthenic Syndromes Therapeutic Strategies in Congenital Myasthenic Syndromes](/preview/png/946233.png)
چکیده انگلیسی
Congenital myasthenic syndromes (CMS) are classified in terms of the located defect: presynaptic, postsynaptic, and synaptic. They are inherited disorders caused by various genetic defects, all but the slow-channel CMS by recessive inheritance. To date, 10 different CMS are known and further CMS subtypes and their genetic cause may be disclosed by future investigations. Prognosis in CMS is variable and largely depends on the pathophysiological and genetic defect. Subtypes showing progression and life-threatening crises with apneas are generally less favorable than others. Therapeutic agents used in CMS depend on the underlying defect and include acetylcholinesterase inhibitor, 3,4-diaminopyridine, quinidine sulfate, fluoxetine, acetazolamide, and ephedrine. Although there are no double-blind, placebo-controlled clinical trials for CMS, several drugs have shown convincingly positive clinical effects. It is therefore necessary to start a rational therapy regime as early as possible. In most CMS, however, mild and severe clinical courses are reported, which makes assessment on an individual basis necessary. This review emphasizes therapeutic strategies in CMS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurotherapeutics - Volume 5, Issue 4, October 2008, Pages 542-547
Journal: Neurotherapeutics - Volume 5, Issue 4, October 2008, Pages 542-547
نویسندگان
Ulrike Schara, Hanns Lochmüller,