congenital myasthenic syndrome

出典: meddic

先天性筋無力症症候群先天性筋無力症候群

postsynaptic congenital myasthenic syndromeslow-channel congenital myasthenic syndrome
CMS

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/08 17:48:14」(JST)

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英文文献

  • Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome.
  • Zhu H1, Grajales-Reyes GE2, Alicea-Vázquez V3, Grajales-Reyes JG2, Robinson K1, Pytel P4, Báez-Pagán CA3, Lasalde-Dominicci JA3, Gomez CM5.
  • Experimental neurology.Exp Neurol.2015 Aug;270:88-94. doi: 10.1016/j.expneurol.2014.10.008. Epub 2014 Oct 23.
  • The slow-channel congenital myasthenic syndrome (SCS) is an inherited neurodegenerative disease that caused mutations in the acetylcholine receptor (AChR) affecting neuromuscular transmission. Leaky AChRs lead to Ca(2+) overload and degeneration of the neuromuscular junction (NMJ) attributed to acti
  • PMID 25448156
  • Selective response to rituximab in a young child with MuSK-associated myasthenia gravis.
  • Govindarajan R1, Iyadurai SJ2, Connolly A3, Zaidman C3.
  • Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Aug;25(8):651-2. doi: 10.1016/j.nmd.2015.03.014. Epub 2015 Apr 22.
  • Neuromuscular junction disorders in children are either genetic, such as congenital myasthenic syndrome, or autoimmune with circulating antibodies most commonly against acetylcholine receptors. There is limited experience recognizing and treating children with myasthenia associated with muscle-speci
  • PMID 25998611
  • [Congenital myasthenic syndromes in childhood: Drug therapeutic strategies].
  • de la Vaissière S1, Toutain A2, Chêne MA3, Lagrue E4, Cantagrel S5, Provost S6, Eymard B7, Castelnau P8.
  • Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie.Arch Pediatr.2015 Jul;22(7):724-8. doi: 10.1016/j.arcped.2015.04.009. Epub 2015 May 28.
  • Congenital myasthenia syndromes (CMS) are a group of genetic disorders responsible for neuromuscular junction dysfunction. Usually beginning before 2 years of age, they are revealed by fatigability and muscle weakness, especially after stress, and often prevent the child's normal development. Over r
  • PMID 26028221

和文文献

  • 本邦における先天性筋無力症候群の臨床的特徴
  • 苛原 香,小牧 宏文,本田 涼子,奥村 彰久,白石 一浩,小林 悠,東 慶輝,中田 智彦,大矢 寧,佐々木 征行
  • 脳と発達 44(6), 450-454, 2012-11-01
  • NAID 10031122019
  • 神経筋接合部病態の定性・定量的評価--超微形態と組織化学 (特集 神経筋接合部--基礎から臨床まで)
  • 吉村 俊朗,本村 政勝,辻畑 光宏
  • Brain and nerve 63(7), 719-727, 2011-07
  • NAID 40018922079
  • アセチルコリン受容体欠乏症による先天性筋無力症候群患児に対する治療の取り組み
  • 石垣 景子,村上 てるみ,伊藤 康,柳澤 暁子,小平 かやの,宍倉 啓子,鈴木 暘子,平山 義人,大澤 真木子
  • 脳と発達 41(1), 37-42, 2009-01-01
  • NAID 10023975646

関連リンク

Congenital myasthenic syndromes (CMS) are a family of inherited neuromuscular disorder characterized usually by weakness and easy fatigability. ... Please note that the author of this page is not a doctor, and that knowledge of ...
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also ...

関連画像

 Gravis and Congenital Myasthenic SyndromeMyasthenic Syndromes, CongenitalCongenital Myasthenic Syndrome Child With Congenital Myasthenic SyndromeCongenital Myasthenic Syndromes Photos and Congenital Myasthenic Syndrome


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拡張検索slow-channel congenital myasthenic syndrome」「postsynaptic congenital myasthenic syndrome」「congenital myasthenic syndromes
関連記事syndrome」「congenital」「congenita」「myasthenic」「myasthenic syndrome

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congenital myasthenic syndrome CMS
先天性筋無力症候群
スローチャネル型先天性筋無力症後シナプス性先天性筋無力症候群


slow-channel congenital myasthenic syndrome」

  [★]

スローチャネル型先天性筋無力症

congenital myasthenic syndromepostsynaptic congenital myasthenic syndromeSCCMS


postsynaptic congenital myasthenic syndrome」

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後シナプス性先天性筋無力症候群

congenital myasthenic syndromeslow-channel congenital myasthenic syndrome

congenital myasthenic syndromes」

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syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」

congenital」

  [★]

  • adj.
  • 生まれつきの、先天的な

WordNet   license wordnet

「present at birth but not necessarily hereditary; acquired during fetal development」
inborn, innate

PrepTutorEJDIC   license prepejdic

「(病気・身体的欠陥など)生まれつきの,先天的な」

congenita」

  [★]

  • adj.
  • (後置するラテン語形容詞)先天性の
congenitalcongenitally
  • ex.


myasthenic」

  [★]

  • adj.
  • 筋無力症の
amyostheniamyasthenia

myasthenic syndrome」

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