フリードライヒ病
WordNet
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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English Journal
- Staging of cardiomyopathy in Friedreich ataxia.
- Peverill RE1.
- International journal of cardiology.Int J Cardiol.2016 Jan 1;202:574-5. doi: 10.1016/j.ijcard.2015.09.047. Epub 2015 Sep 21.
- PMID 26451786
- Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia.
- Rezende TJ1, Silva CB1, Yassuda CL1, Campos BM1, D'Abreu A1, Cendes F1, Lopes-Cendes I2, França MC Jr1.
- Movement disorders : official journal of the Movement Disorder Society.Mov Disord.2015 Dec 21. doi: 10.1002/mds.26436. [Epub ahead of print]
- INTRODUCTION: Spinal cord and peripheral nerves are classically known to be damaged in Friedreich's ataxia, but the extent of cerebral involvement in the disease and its progression over time are not yet characterized. The aim of this study was to evaluate longitudinally cerebral damage in Friedreic
- PMID 26688047
- MRI Texture Analysis Reveals Bulbar Abnormalities in Friedreich Ataxia.
- Santos TA1, Maistro CE1, Silva CB2, Oliveira MS1, França MC Jr2, Castellano G3.
- AJNR. American journal of neuroradiology.AJNR Am J Neuroradiol.2015 Dec;36(12):2214-8. doi: 10.3174/ajnr.A4455. Epub 2015 Sep 10.
- BACKGROUND AND PURPOSE: Texture analysis is an image processing technique that can be used to extract parameters able to describe meaningful features of an image or ROI. Texture analysis based on the gray level co-occurrence matrix gives a second-order statistical description of the image or ROI. In
- PMID 26359147
Japanese Journal
- Friedreich病とビタミンE単独欠損性失調症 (特集 脊髄小脳変性症(SCD)のUp-To-Date) -- (常染色体劣性遺伝性SCD)
- Cisplatin May Induce Frataxin Expression
- Ghazizadeh Mohammad
- Journal of Nippon Medical School 70(4), 367-371, 2003
- … Decreased expression of frataxin protein is associated with Friedreich's ataxia (FRDA) which is a neurodegenerative disease involving ROS-mediated cellular damage. …
- NAID 130004057244
- PMP22遺伝子の重複をみとめたRoussy-Levy症候群の1例
Related Links
- Friedreich, Nikolaus (fret'rik?, fred') Ger. neurologist, 1825–1882. Friedreich ataxia An inherited degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord. It is accompanied by muscular uncoordination ...
- ... Friedreich's disease I www.whonamedit.com 3 HONcode - Friedreich's ataxia www.healthcentral.com Friedreich's Ataxia | MDA www.mdausa.org next results Broader term(s): - Spinocerebellar Degenerations - - - - - Diseases ...
★リンクテーブル★
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- 英
- Friedreich's ataxia Friedreich ataxia FA
- 同
- フリードライヒ失調症, Friedreich運動失調症, Friedreich失調症,Friedreich病, フリードライヒ病 Friedreich disease、遺伝性脊髄性運動失調症 hereditary spinal ataxia
- 関
- 脊髄小脳変性症
概念
病因
- FRDA(9q13)のfrataxin遺伝子におけるGAAリピートの増加あるいは点変異。
疫学
遺伝形式
病理
- (1)脊髄後角、(2)脊髄小脳路、(3)錐体路の変性、(4)後根神経節、後根、末梢神経
- 後索、皮質脊髄路、脊髄小脳路に変性 (BET.335)
症状
- 下肢優位の後索症状、後根障害による反射消失
- Babinski徴候、構音障害、知能障害、拡張型心筋症、足変形、脊柱側彎が高率に見られる。(BET.244)
- 初発症状:深部覚障害による失調性歩行。四肢末梢の筋萎縮、深部知覚障害(振動覚減弱)
- 慢性・進行性・左右対称性
- 運動失調は下肢から上肢に進展。運動失調は脊髄性に小脳性が加わってくる。
- 下肢の運動失調 → 足の変形 → 上肢の運動失調 → 失調性構音障害、眼振(YN.J-127)
- 2. 末梢神経障害： 後根の障害による。反射弓が障害されるので反射が消失する ex. 膝蓋腱反射の消失
- 3. 錐体路の障害： 原始反射出現。腱反射亢進
- 4. そのほか、心筋障害、糖尿病、知能低下、眼振、視神経萎縮、骨格の変形
検査
診断
治療
予後
- 緩徐に進行し20-25歳で運動不能(YN.J-127)
予防
参考
- http://www.nurs.or.jp/~academy/igaku/s7/s7431.htm
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- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder