KEGG   DISEASE: 先天性核上性球麻痺
エントリ  
H01837                                                             
名称    
先天性核上性球麻痺;
ウースター・ドロート症候群
概要    
Congenital suprabulbar paresis (Worster- Drought syndrome) is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development. Owing to the paresis of the orbicularis oris the patient is unable to round the lips or to blow, but as other facial muscles are not affected he can smile normally and close his eyes. An increased jaw jerk and a positive snout reflex are sometimes found, suggesting an upper motor neurone lesion. Congenital suprabulbar paresis has not yet been recognised in the literature as a genetic entity but occasional familial cases suggest that it may have a genetic basis.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  脳性麻痺
   8D23  ウースター・ドロート症候群
    H01837  先天性核上性球麻痺
指定難病 [jp08407.html]
 H01837
リンク   
ICD-11: 8D23
MeSH: C536747
OMIM: 185480
文献    
  著者
Clark M, Harris R, Jolleff N, Price K, Neville BG
  タイトル
Worster-Drought syndrome: poorly recognized despite severe and persistent difficulties with feeding and speech.
  雑誌
Dev Med Child Neurol 52:27-32 (2010)
DOI:10.1111/j.1469-8749.2009.03475.x
文献    
PMID:3955865
  著者
Patton MA, Baraitser M, Brett EM
  タイトル
A family with congenital suprabulbar paresis (Worster-Drought syndrome).
  雑誌
Clin Genet 29:147-50 (1986)
DOI:10.1111/j.1399-0004.1986.tb01239.x
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