ルシー・レヴィ症候群
WordNet
- a decrease in size of an organ caused by disease or disuse (同)wasting, wasting away
- undergo atrophy; "Muscles that are not used will atrophy"
- any weakening or degeneration (especially through lack of use) (同)withering
- a message whose ingenuity or verbal skill or incongruity has the power to evoke laughter (同)humor, humour, witticism, wittiness
- of or relating to or consisting of muscle; "muscular contraction"
- having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"
PrepTutorEJDIC
- 《随伴・協調》…『と』,と共に,といっしょに / 《所有・所持》…『を持っている』,がある,の付いた / 《道具・手段》…『で』,を使って / 《財料・供給物》…『で』,を与えて / …を支持して,に賛成して / …『に反対(敵対)して』,を相手として / …『と同時に』,と同様に / …『に比べて』,に比例して / 《様態》《名詞を伴い副詞句として》『…で』,を示して,をもって / 《付帯状競》…『して』,しながら / 《譲歩》…がありながら,にもかかわらず / 『…が原因で』,のために,…で / …に任せて,のもとにあずけて,のところに / …に関して,について / …から離れて / 《連結・混合》…と / 《副詞と共に命令文で》
- (栄養不良などによる)萎縮(いしゅく) / (一般的に)衰退,退化 / 萎縮する,衰退する / …'を'萎縮させる,衰退させる
- 知る(know)
- 〈U〉『機知』,機転,ウィット / 〈C〉『機知に富む人』,機転のきく人 / 《複数形で;単数扱い》『理解(表現)力』,知性 / 《複数形で》(物事を見抜いたりもくろんだりする)才覚,才知 / 《複数形で;単数扱い》正気
- 『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した
- 世襲の,親譲りの / 遺伝的な,遺伝性の
UpToDate Contents
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English Journal
- Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
- Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.SourceInstitute of Human Genetics, Medical Faculty, University Hospital Aachen, Germany. srudnik-schoeneborn@ukaachen.de
- Neurology.Neurology.2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.
- OBJECTIVES: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients
- PMID 23284067
- Assessment of swallowing in motor neuron disease and Asidan/SCA36 patients with new methods.
- Morimoto N, Yamashita T, Sato K, Kurata T, Ikeda Y, Kusuhara T, Murata N, Abe K.SourceDepartment of Neurology Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama University, Okayama, Japan.
- Journal of the neurological sciences.J Neurol Sci.2013 Jan 15;324(1-2):149-55. doi: 10.1016/j.jns.2012.10.025. Epub 2012 Nov 10.
- BACKGROUND: We report on a unique complication of cerebellar ataxia and motor neuron disease named Asidan/SCA36 with a high frequency of tongue atrophy. We aimed to elucidate dysphagia in amyotrophic lateral sclerosis (ALS) and spinal, bulbar muscular atrophy (SBMA), and Asidan/SCA36 patients with n
- PMID 23146615
Japanese Journal
- Molecular Genetics of Triplet Repeats: Unstable Expansion of Triplet Repeats as a New Mechanism for Neurodegenerative Diseases
- Tsuji Shoji
- Internal medicine 36(1), 3-8, 1997-01-01
- … Expansion of trinucleotide repeats has been identified as a common mechanism of hereditary neurodegenerative diseases including spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), fragile X syndrome, myotonic dystrophy and Friedreich's ataxia. …
- NAID 10008547940
Related Links
- Ataxia hereditary, muscular atrophy symptoms, causes, diagnosis, and treatment information for Ataxia hereditary, muscular atrophy (Roussy-Levy hereditary areflexic dystasia) with alternative diagnoses, full-text book chapters ...
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★リンクテーブル★
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- 英
- Roussy-Levy syndrome
- 同
- 遺伝性無反射性起立障害 hereditary areflexic dystasia, 筋萎縮を伴う遺伝性失調症 hereditary ataxia with muscular atrophy
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- 英
- hereditary ataxia with muscular atrophy
- 関
- ルシー・レヴィ症候群
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- 関
- heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited
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- 関
- muscle、muscularis、musculus、myo
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