Oculopharyngeal muscular dystrophy (OPMD)

被引：0
|
作者：
Neetens, A
Martin, JJ
Brais, B
Wein, B
Dreuw, B
Tijssen, CC
Ceuterick, C
机构：
[1] MCGILL UNIV,NEUROSCI RES INST,MONTREAL,PQ,CANADA
[2] RHEIN WESTFAL TH AACHEN,DEPT RADIOL,D-5100 AACHEN,GERMANY
[3] RHEIN WESTFAL TH AACHEN,DEPT SURG,D-5100 AACHEN,GERMANY
[4] ELISABETH GH,DEPT NEUROL,TILBURG,NETHERLANDS
来源：
NEURO-OPHTHALMOLOGY | 1997年 / 17卷 / 04期
关键词：
OPMD; ptosis; dysphagia; Guyton-Friedenwald ptosis procedure; videofluorography;
D O I：
10.3109/01658109709044665
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Six OPMD families (one of five generations) confirm that the disease is autosomal dominant; mapping on chromosome 14 has been described. There is obvious anticipation of the cardinal symptoms ptosis and dysphagia. Hutchinson face is a hallmark of chronic progressive external ophthalmoplegia (CPEO), the correct diagnosis of which relies on careful history-taking and histopathology of a girdle muscle showing the rimmed vacuoles and the specific intranuclear filaments. Diet, fluid food, and early swallowing training is advised, as is the easy, hardly invasive Guyton-Friedenwald surgery for ptosis, which is adaptable during the evolution of the disease.
引用
收藏
页码：189 / 200
页数：12
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