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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Unverricht–Lundborg disease ： ウィキペディア英語版 Unverricht–Lundborg disease Unverricht–Lundborg disease (abbreviated ULD or EPM1) is the most common form of an uncommon group of genetic epilepsy disorders called the progressive myoclonus epilepsies.〔Saneto, Russell P (editor). (Unverricht-Lundborg Disease ). ''epilepsy.com''.〕 It is caused due to a mutation in the cystatin B gene (CSTB).〔Joensuu T, Lehesjoki AE, Kopra O. 2008. Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia 49:557-63〕 The disease is named after Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1903. ULD onsets in children between the ages of 6 and 16; there are no known cases in which the person was older than 18.〔Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. 2008. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 49:549-56〕 Most cases originate from the Baltic region of Europe, though many have been reported from countries in the Mediterranean.〔 Onset of the disease is characterized by myoclonic jerks and tonic-clonic seizures.〔 Early cases often resulted in the need of a wheelchair and death before the age of 24,〔Chew NK, Mir P, Edwards MJ, Cordivari C, Martino D, et al. 2008. The natural history of Unverricht-Lundborg disease: A report of eight genetically proven cases. Movement Disorders 23:107-13〕 but new treatments and medications have increased the life expectancy of individuals with ULD, in some cases even to near that of an unaffected individual.〔 ==Classification== Unverricht–Lundborg disease is also known as EPM1, as it is a form of progressive myoclonic epilepsy (PME). Other progressive myoclonic epilepsies include myoclonus epilepsy and ragged red fibers (MERRF syndrome), Lafora disease (EPM2a or EMP2b), Neuronal ceroid lipofuscinosis (NCL) and sialidosis. Progressive myoclonic epilepsies generally constitute only a small percentage of epilepsy cases seen, and ULD is the most common form. While ULD can lead to an early death, it is considered to be the least severe form of progressive myoclonic epilepsy. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Unverricht–Lundborg disease」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.