出典: meddic

  • n.
  • (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー

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「any degenerative disorder resulting from inadequate or faulty nutrition」

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「栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)」

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/10/16 13:32:29」(JST)

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  • Update on the treatment of duchenne muscular dystrophy.
  • Rodino-Klapac LR, Mendell JR, Sahenk Z.SourceDepartment of Pediatrics, The Ohio State University, and Nationwide Children's Hospital, Columbus, OH, 43210, USA, louise.rodino-klapac@nationwidechildrens.org.
  • Current neurology and neuroscience reports.Curr Neurol Neurosci Rep.2013 Mar;13(3):332. doi: 10.1007/s11910-012-0332-1.
  • Duchenne muscular dystrophy is the most severe childhood form of muscular dystrophy caused by mutations in the gene responsible for dystrophin production. There is no cure, and treatment is limited to glucocorticoids that prolong ambulation and drugs to treat the cardiomyopathy. Multiple treatment s
  • PMID 23328943
  • Dystrophin and utrophin "double knockout" dystrophic mice exhibit a spectrum of degenerative musculoskeletal abnormalities.
  • Isaac C, Wright A, Usas A, Li H, Tang Y, Mu X, Greco N, Dong Q, Vo N, Kang J, Wang B, Huard J.SourceStem Cell Research Center, Bridgeside Point II, 450 Technology Dr, Suite 206, Pittsburgh, Pennsylvania 15219; Department of Orthopaedic Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261.
  • Journal of orthopaedic research : official publication of the Orthopaedic Research Society.J Orthop Res.2013 Mar;31(3):343-9. doi: 10.1002/jor.22236. Epub 2012 Oct 23.
  • Duchenne muscular dystrophy (DMD) is a degenerative muscle disorder characterized by the lack of dystrophin expression at the sarcolemma of muscle fibers. In addition, DMD patients acquire osteopenia, fragility fractures, and scoliosis indicating that a deficiency in skeletal homeostasis coexists bu
  • PMID 23097179
  • Double trouble: Duchenne muscular dystrophy and hemophilia.
  • Gokce M, Haliloğlu G, Serdaroğlu E, Cağlayan H, Gümrük F.SourcePediatric Hematology Unit Ihsan Dogramacı Children's Hospital Hacettepe University Ankara, Turkey. muge.gokce@hacettepe.edu.tr.
  • Pediatric blood & cancer.Pediatr Blood Cancer.2013 Mar;60(3):525. doi: 10.1002/pbc.24376. Epub 2012 Dec 19.
  • PMID 23255221
  • Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice.
  • Gumerson JD, Davis CS, Kabaeva ZT, Hayes JM, Brooks SV, Michele DE.AbstractMutations in several glycosyltransferases underlie a group of muscular dystrophies known as glycosylation-deficient muscular dystrophy. A common feature of these diseases is loss of glycosylation and consequent dystroglycan function that is correlated with severe pathology in muscle, brain and other tissues. Although glycosylation of dystroglycan is essential for function in skeletal muscle, whether glycosylation-dependent function of dystroglycan is sufficient to explain all complex pathological features associated with these diseases is less clear. Dystroglycan glycosylation is defective in LARGE(myd) (myd) mice as a result of a mutation in like-acetylglucosaminyltransferase (LARGE), a glycosyltransferase known to cause muscle disease in humans. We generated animals with restored dystroglycan function exclusively in skeletal muscle by crossing myd animals to a recently created transgenic line that expresses LARGE selectively in differentiated muscle. Transgenic myd mice were indistinguishable from wild-type littermates and demonstrated an amelioration of muscle disease as evidenced by an absence of muscle pathology, restored contractile function and a reduction in serum creatine kinase activity. Moreover, although deficits in nerve conduction and neuromuscular transmission were observed in myd animals, these deficits were fully rescued by muscle-specific expression of LARGE, which resulted in restored structure of the neuromuscular junction (NMJ). These data demonstrate that, in addition to muscle degeneration and dystrophy, impaired neuromuscular transmission contributes to muscle weakness in dystrophic myd mice and that the noted defects are primarily due to the effects of LARGE and glycosylated dystroglycan in stabilizing the endplate of the NMJ.
  • Human molecular genetics.Hum Mol Genet.2013 Feb 15;22(4):757-68. doi: 10.1093/hmg/dds483. Epub 2012 Dec 6.
  • Mutations in several glycosyltransferases underlie a group of muscular dystrophies known as glycosylation-deficient muscular dystrophy. A common feature of these diseases is loss of glycosylation and consequent dystroglycan function that is correlated with severe pathology in muscle, brain and other
  • PMID 23222475


  • 治療と対応 網膜ジストロフィをもつ小児ヘの対応 (特集 遺伝性網膜疾患のトータルケア)
  • 基礎と診断 遺伝性網膜変性疾患の遺伝子検査 (特集 遺伝性網膜疾患のトータルケア)
  • ポンペ病の酵素補充療法 : 長期的な治療効果と課題 (特集 酵素補充療法)
  • Brain and nerve : 神経研究の進歩 67(9), 1091-1098, 2015-09
  • NAID 40020572907
  • デュシャンヌ型筋ジストロフィー児に対する授業成果の測定 : 心理・生理・病理との関連性及び多面的なSNEATの活用可能性


Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or ...
dys·tro·phy (dĭs′trə-fē) also dys·tro·phi·a (dĭ-strō′fē-ə) n. 1. A degenerative disorder caused by inadequate or defective nutrition. 2. Any of several disorders, especially muscular dystrophy, in which the muscles weaken and atrophy.
Muscular dystrophy is an inherited disorder that causes progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. Some of the genes ...


 of « Microcystic corneal dystrophyFuchs’ DystrophyCogan’s DystrophyEpithelial basement membrane dystrophy dystrophy (Courtesy of Michel Belin, MDFuchs’ Endothelial Dystrophy Hereditary Endothelial Dystrophy Pictures and Photos of Muscular Dystrophy

リンク元100Cases 14」「栄養不良」「栄養失調症」「異栄養」「異栄養症
拡張検索congenital generalized lipodystrophy」「HIV-associated lipodystrophy syndrome」「Becker tardive muscular dystrophy」「Becker's muscular dystrophy」「lipodystrophy syndrome

100Cases 14」


☆case14 複視
diplopia n. 複視
筋力低下筋無力筋脱力 muscle weakness, muscular weakness
vt. sinkのpp.
3,4-ジアミノピリジン 3,4-diaminopyridine 3,4-DAP K+チャネル阻害薬;ランバートイートン筋無力治療
43-year-old woman
cheif complaint: diplopia
present history: diplopia and holding her head up ; more marked in the evenings, for the last 3 months. difficulty of chewing. voice has become quieter. weight loss (3kg / 6months). non-smoker. drinks about 15 units/week. no regular medication.
past history: no significant previous medical illnesses.
family history: lives with her husband and three children.
診察 examination
looks well.
organ systems: normal; cardiovascular, respiratory, and abdominal systems.
muscle power; grossly normal. decrease after testing a movement repetitively.
motor function: normal; tone, coordination, reflexes and sensation.
bilateral ptosis. exacerbated by prolonged upward gaze
eye: normal; pupillary reflexes, eye movements, and funduscopy
diagnosis: myathenia gravis
differential diagnoses:
上位and/or下位運動ニューロン motor neurone disease 運動ニューロン疾患線維束性攣縮進行例では筋力低下
muscular dystrophy 筋ジストロフィー:ある種の筋肉選択的筋力低下する。家族歴がある。
dystrophia myotonica 強直性筋ジストロフィー咬筋側頭筋胸鎖乳突筋筋萎縮四肢遠位端の筋萎縮顔貌特徴的(前頭部脱毛、無表情、窪んだ頬)。家族歴ある。筋電図診断有用(急降下爆撃音)。
polymyositis 多発筋炎普通皮疹関節痛出現CK上昇筋生検診断有用
myopathy ミオパチー:甲状腺中毒性ミオパチー甲状腺機能低下症によるミオパチークッシング症候群によるミオパチーアルコール性のミオパチー
神経筋接合部non-metastatic associations of malignancy (paraneoplastic syndrome(傍腫瘍性症候群 = 腫瘍随伴症候群)のこと):胸腺腫症例の10%に重症筋無力症がみられる。ランバートイートン筋無力症候群小細胞癌関連がある。
Treatment with penicillamine (used for scleroderma or rheumatoid arthritis) may result in true autoimmune MG, but the weakness is usually mild, and recovery occurs within weeks or months after discontinuing its use.
Aminoglycoside antibiotics or procainamide can cause exacerbation of weakness in myasthenic patients; very large doses can cause neuromuscular weakness in normal individuals.
HIM = Harrison's Principles of Internal Medicine 17th Edition
CASES = 100 Cases in Clinical Medicine Second edition
IMD = 内科診断学第2版



malnutrition, dystrophy



malnutrition, dystrophy







congenital generalized lipodystrophy」

  [★] 先天性全身型リポジストロフィー先天性全身性リポジストロフィー

HIV-associated lipodystrophy syndrome」



HIV lipodystrophy syndrome

Becker tardive muscular dystrophy」

  [★] ベッカー型筋ジストロフィー

Becker's muscular dystrophy」

  [★] ベッカー型筋ジストロフィー

lipodystrophy syndrome」

  [★] リポジストロフィー症候群