WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- (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
- (病気・身体的欠陥など)生まれつきの,先天的な
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- 1. 新生児および幼児における神経筋接合部障害 neuromuscular junction disorders in newborns and infants
- 2. 重症筋無力症の鑑別診断 differential diagnosis of myasthenia gravis
- 3. 重症筋無力症の臨床症状 clinical manifestations of myasthenia gravis
- 4. 脊髄性筋萎縮症 spinal muscular atrophy
- 5. 重症筋無力症の診断 diagnosis of myasthenia gravis
English Journal
- KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
- Natera-de Benito D1, Nascimento A2, Abicht A3,4, Ortez C2, Jou C5, Müller JS6, Evangelista T6, Töpf A6, Thompson R6, Jimenez-Mallebrera C2,7, Colomer J2, Lochmüller H6.
- Journal of neurology.J Neurol.2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.
- Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with conge
- PMID 26754003
- Late presentations of congenital myasthenic syndromes - how many do we miss?
- Garg N1, Yiannikas C2, Hardy TA1, Belaya K3, Cheung J3, Beeson D3, Reddel SW1.
- Muscle & nerve.Muscle Nerve.2016 Feb 22. doi: 10.1002/mus.25085. [Epub ahead of print]
- INTRODUCTION: Congenital myasthenic syndrome (CMS) usually presents neonatally or in early childhood. When it presents later, it may be mistaken for seronegative autoimmune myasthenia, and unnecessary immunosuppressive treatment may be administered.METHODS: Patients who met criteria for seronegative
- PMID 26910802
- Neuromuscular junction degeneration in muscle wasting.
- Rudolf R1, Deschenes MR, Sandri M.
- Current opinion in clinical nutrition and metabolic care.Curr Opin Clin Nutr Metab Care.2016 Feb 11. [Epub ahead of print]
- PURPOSE OF REVIEW: Denervation is a hallmark of age-related and other types of muscle wasting. This review focuses on recent insights and current viewpoints regarding the mechanisms and clinical relevance of maintaining the neuromuscular junction to counteract muscle wasting resulting from aging or
- PMID 26870889
Japanese Journal
- 神経筋接合部における遺伝子異常と疾患 (特集 神経筋接合部--基礎から臨床まで)
- 大野 欽司
- Brain and nerve 63(7), 669-678, 2011-07
- NAID 40018922073
- 先天性筋無力症の分子基盤 (特集 筋ジストロフィーの分子病態から治療へ)
- 手塚 徹,山梨 裕司
- 生体の科学 62(2), 106-111, 2011-03
- NAID 40018804617
Related Links
- 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 ...
- 1. Congenital Myasthenic Syndromes. Abicht A, Müller J S, Lochmüller H. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors.
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| 関連記事 | 「congenita」「myasthenic」「congenital」「syndrome」 |
「congenita」
- adj.
- (後置するラテン語形容詞)先天性の
- ex.
「myasthenic」
- adj.
- 筋無力症の
「congenital」
- adj.
- 生まれつきの、先天的な
「syndrome」
- n.