脊髄性筋萎縮症1型
WordNet
- work natural fibers into a thread; "spin silk"
- prolong or extend; "spin out a visit" (同)spin out
- the act of rotating rapidly; "he gave the crank a spin"; "it broke off after much twisting" (同)twirl, twist, twisting, whirl
- a distinctive interpretation (especially as used by politicians to sway public opinion); "the campaign put a favorable spin on the story"
- a short drive in a car; "he took the new car for a spin"
- a swift whirling motion (usually of a missile)
- revolve quickly and repeatedly around ones own axis; "The dervishes whirl around and around without getting dizzy" (同)spin around, whirl, reel, gyrate
- form a web by making a thread; "spiders spin a fine web"
- make up a story; "spin a yarn"
- stream in jets, of liquids; "The creek spun its course through the woods"
- twist and turn so as to give an intended interpretation; "The Presidents spokesmen had to spin the story to make it less embarrassing"
- gradually advancing in extent
- a tense of verbs used in describing action that is on-going (同)progressive tense, imperfect, imperfect tense, continuous tense
- favoring or promoting reform (often by government action) (同)reformist, reform-minded
- (of a card game or a dance) involving a series of sections for which the participants successively change place or relative position; "progressive euchre"; "progressive tournaments"
- (of taxes) adjusted so that the rate increases as the amount of income increases
- advancing in severity; "progressive paralysis"
- favoring or promoting progress; "progressive schools"
- 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
- of or relating to infants or infancy; "infantile paralysis"
- being or befitting or characteristic of an infant; "infantile games"
- 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
- (羊毛などから)〈糸など〉‘を'『紡ぐ』《+『名』+『out of』+『名』〈羊毛〉》,(糸などに)〈羊毛など〉‘を'紡ぐ《+『名』〈羊毛〉+『into』+『名』》 / 〈クモ・カイコなどが〉〈糸〉‘を'『吐く』;〈巣・繭〉‘を'かける / …‘を'くるくる回す / 〈物語など〉‘を'作る,話す / 『糸を紡ぐ』;〈クモ・カイコなどが〉糸を吐く / 〈こまなどが〉くるくる回る / 〈車などが〉疾走する / 〈頭などが〉くらくらする / 〈C〉〈U〉くるくる回すこと;回転 / 〈C〉《単数形で》(車などの)一走り / 〈C〉(飛行機の)きりもみ降下 / 〈C〉《単数形で》(価値などの)急落
- (行列などが)『前進する』,進んで行く / (事態が)進展する,進行する / 『進歩的な』,革新的な / (病気・暴力などが)次第に悪くなる(広がる) / (課税が)累進的な / (文法で)進行[形]の / 進歩的な人,革新主義者
- (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
- 《名詞の前にのみ用いて》幼時の / 子供じみた;子供らしい
- 『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した
UpToDate Contents
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English Journal
- Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency.
- Barone C, Bianca S.SourceCentro di Consulenza Genetica e Teratologia della Riproduzione - Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italia.
- Fetal diagnosis and therapy.Fetal Diagn Ther.2013;33(1):65-8. doi: 10.1159/000343252. Epub 2012 Nov 7.
- Introduction: Several authors have reported on pregnancy outcomes associated with enlarged nuchal translucency (NT) in cases of spinal muscular atrophy (SMA), and thus, thickened NT has been considered a possible early ultrasound scan sign of SMA. The purpose of our study was to evaluate the associa
- PMID 23147083
- Stem cells in severe infantile spinal muscular atrophy (SMA1).
- Cohn RD.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2012 Dec;22(12):1106-7. doi: 10.1016/j.nmd.2012.10.023.
- PMID 23206851
- Stem cells in severe infantile spinal muscular atrophy.
- Mercuri E, Bertini E.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2012 Dec;22(12):1105. doi: 10.1016/j.nmd.2012.11.001.
- PMID 23206850
Japanese Journal
- Werdnig-Hoffmann Disease Type I with Progressive Ophthalmoplegia and Ptosis.
- 大蔵 美佐子,満留 昭久,安元 佐和,小川 厚
- 脳と発達 28(4), 332-335, 1996
- … Although pathological changes are observed in both the oculomotor nucleus and abducens nucleus in autopsied cases of infantile progressive spinal muscular atrophy, external and internal ocular palsy and ptosis have not been previously reported clinically. …
- NAID 130004183061
- Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms
- Static B-scan ultrasound imaging in the diagnosis of neuromuscular diseases in children.
- 八木 芳雄,天野 芳郎,花岡 康彦,安河内 聡,原 洋治,武田 伸一,赤羽 太郎
- 脳と発達 19(3), 204-209, 1987
- … muscle, an atraumatic and noninvasive technique, was studied on 23 patients (7 children with progressive muscular dystrophy, 2 with congenital muscular dystrophy, 2 with spinal muscular atrophy, 1 with infantile neuroaxonal dystrophy, and 11 with hypotonia of probable muscular origin) and 12 control children.<BR>Transverse and longitudinal ultrasound images of …
- NAID 130004182302
Related Links
- Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in the SMN1 gene that codes SMN, ... Consequently, motor muscles undergo progressive atrophy. .... The most severe form of SMA type I is sometimes termed SMA type 0 (or severe infantile SMA) and is diagnosed in babies that ...
- spinal mus·cu·lar at·ro·phy type I [MIM*253300]. the early infantile form, characterized by profound muscle weakness and wasting with onset at or shortly after birth; death occurs usually before 2 years of age. Autosomal recessive inheritance ...
★リンクテーブル★
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- 英
- spinal muscular atrophy type 1
- 同
- ウェルドニッヒ・ホフマン病 Werdnig-Hoffmann病 Werdnig-Hoffmann disease, WHD、幼児型脊髄性進行性筋萎縮症 infantile spinal progressive muscular atrophy, WH病
- 関
- 脊髄性筋萎縮症 SMA
概念
遺伝
予後
参考
- 1. SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 - OMIM
- http://omim.org/entry/253300
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- 関
- baby、infant、newborn infant、puerility、suckling、sucklings
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- 関
- dorsal spine、rachis、spinal column、spinal cord、spine、vertebral column
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- 関
- muscle、muscularis、musculus、myo
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- 関
- progressively
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