球脊髄性筋萎縮症
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
- 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
- (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
- 『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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- 1. 筋萎縮性側索硬化症およびその他の運動ニューロン疾患の診断diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease [show details]
…receptor gene on chromosome Xq11-12 occurs in men with spinobulbar muscular atrophy (also known as bulbospinal muscular atrophy or Kennedy disease) . This X-linked disorder is characterized by onset from…
- 2. 脊髄性筋萎縮症spinal muscular atrophy [show details]
…typically related to frontotemporal executive dysfunction. Spinobulbar muscular atrophy – Spinobulbar muscular atrophy (Kennedy disease) is an X-linked disorder characterized with onset from ages 20 …
- 3. アンドロゲン不応症の発症機序と臨床的特徴pathogenesis and clinical features of disorders of androgen action [show details]
…described. An unanticipated variation of AR gene structure occurs in men with spinobulbar muscular atrophy (Kennedy disease) . This X-linked disorder is characterized by progressive degeneration of anterior…
- 4. 家族性筋萎縮性側索硬化症familial amyotrophic lateral sclerosis [show details]
…unreliable at the level of individual cases. Genetic testing may play a role in making the diagnosis of Kennedy syndrome and late-onset Tay-Sachs disease, two genetic disorders that can mimic some of the clinical…
- 5. 末梢神経疾患および筋疾患の鑑別診断differential diagnosis of peripheral nerve and muscle disease [show details]
…Approximately 5 to 10 percent of amyotrophic lateral sclerosis cases are familial. Another syndrome, Kennedy disease, is an X-linked form of motor neuron disease that is often associated with prominent bulbar signs…
English Journal
- Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm.
- Gerbino V, Carrì MT, Cozzolino M, Achsel T.SourceFondazione Santa Lucia IRCCS, Rome, Italy; Dipartimento di Biologia, Università di Roma "Tor Vergata", Rome, Italy.
- Neurobiology of disease.Neurobiol Dis.2013 Jul;55:120-8. doi: 10.1016/j.nbd.2013.03.003. Epub 2013 Mar 21.
- Genes encoding RNA-binding proteins have frequently been implicated in various motor neuron diseases, but the particular step in RNA metabolism that is vulnerable in motor neurons remains unknown. FUS, a nuclear protein, forms cytoplasmic aggregates in cells affected by amyotrophic lateral sclerosis
- PMID 23523636
- Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
- Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ; Project Cure SMA Investigators Network.Collaborators (16)Swoboda KJ, Acsadi G, Crawford T, D'Anjou G, Elsheik B, Kissel JT, Kishnani P, Krosschell KJ, LaSalle B, Reyna SP, Schroth MK, Scott C, Simard LR, Smith EC, Wirth B, von Kleist-Retzow JC.
- Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.Pediatr Phys Ther.2013 Summer;25(2):140-8; discussion 149. doi: 10.1097/PEP.0b013e31828a205f.
- PURPOSE: This study examined the reliability and validity of the Test of Infant Motor Performance Screening Items (TIMPSI) in infants with type I spinal muscular atrophy (SMA).METHODS: After training, 12 evaluators scored 4 videos of infants with type I SMA to assess interrater reliability. Intrarat
- PMID 23542189
- Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
- Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L.SourceMedical Genetics Institute, Catholic University, Rome, Italy.
- European journal of human genetics : EJHG.Eur J Hum Genet.2013 Jun;21(6):630-6. doi: 10.1038/ejhg.2012.233. Epub 2012 Oct 17.
- Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. Based on severity, three forms of SMA are recognized (types I-III). All patients usually have 2-4 copies of a highly homologous gene (SMN2), which produces insufficient level
- PMID 23073312
Japanese Journal
- 女性化乳房をみとめ,常染色体優性遺伝が考えられた球脊髄性筋萎縮症の一家系
- トリプレットリピート病の神経生理学的特徴に関する研究 : 病態生理とCAGリピートとの相関
Related Links
- NINDS Kennedy's Disease Information Page Synonym(s): Bulbospinal Muscular Atrophy, X-Linked Spinal and Bulbar Muscular Atrophy Table of Contents (click to ... What is Kennedy's Disease? Kennedy's disease is an ...
- Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is ...
★リンクテーブル★
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- 英
- spinobulbar muscular atrophy SBMA , spinal and bulbar muscular atrophy, bulbospinal muscular atrophy BSMA
- 同
- 球脊髄ニューロン症 bulbospinal neuronopathy、ケネディ・オルター・スン症候群 Kennedy-Alter-Sung症候群 Kennedy-Alter-Sung syndrome Kennedy-Alter-Sung disease、ケネディ病 Kennedy disease
- 関
- 運動ニューロン疾患、脊髄性筋萎縮症、トリプレットリピート病、脊髄性進行性筋萎縮症
概念
- 成人期に発症する緩徐進行性の筋萎縮症で、下位運動ニューロンを冒す。
- 運動ニューロン疾患でありながら、近位筋優位に障害される。
疫学
病因
- X染色体に座乗するアンドロゲン受容体の第1エキソンに存在するCAGリピートが延長していることによる。
遺伝形式
徴候
アンドロゲン受容体の異常に基づく
- 性腺機能異常(女性化乳房、インポテンツ、性腺萎縮、無精子症)
筋萎縮に随伴
- 球麻痺(嚥下障害、構音障害)
- 筋萎縮(顔面筋・舌筋萎縮)
- 筋線維束攣縮
検査
- CK:軽度上昇
- 筋電図:
- 遺伝子検査:(CKや筋電図で十分であるが)非定型例や保因者の診断に有用
診断
治療
予後
参考
- http://grj.umin.jp/grj/kennedy.htm
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- 英
- triplet repeat disease
- 同
- トリヌクレオチドリピート病 trinucleotide repeat disorder、リピート伸長病 repeat expansion disease、3塩基繰り返し病、トリプレット反復病 triplet repeat disease
- 関
- 3塩基のリピートが翻訳領域に反復して現れることにより、発病機構は不明であるが発病する疾病を総称して言う。
- 下位の疾病概念にポリグルタミン病、CAGリピート病がある。
- ポリグルタミン病の中にハンチントン舞踏病が含まれる。
特徴
- 発症前診断
- 促通現象
- 体細胞モザイク
- gain of function
- 多くが優性遺伝で成人発症
- 神経系の変性疾患
トリプレットリピート病
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- 関
- muscle、muscularis、musculus、myo
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