A Case of the Oculopharyngeal Muscular Dystrophy.
- Author:
Jong Bok LEE
1
;
Ki Chang KIM
;
Sang Gyun BUM
Author Information
1. Depatrroent of Ophthalroology, Yonsei University, College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- MeSH:
Blepharoptosis;
Deglutition Disorders;
Leg;
Muscle, Skeletal;
Muscular Diseases;
Muscular Dystrophy, Oculopharyngeal*;
Myocardium;
Ophthalmoplegia, Chronic Progressive External;
Penetrance
- From:Journal of the Korean Ophthalmological Society
1987;28(2):489-494
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most prominent findings. It is a systemic myopathy which affects all voluntary muscles and appears to spare smooth and cardiac muscle. The authors experienced a case of the oculopharyngeal muscular dystrophy which showed characteristic signs and symptoms such as symmetric ptosis, dysphagia, and progressive external ophthalmoplegia, and the literature were reviewed.
