| H01837 | |
| H番号 | 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 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8D23 ICD-10: G80.8 MeSH: C536747 OMIM: 185480 |
| 文献 | PMID:19824895 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 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 |