A Case of the Oculopharyngeal Muscular Dystrophy. |
Jong Bok Lee, Ki Chang Kim, Sang Gyun Bum |
Depatrroent of Ophthalroology, Yonsei University, College of Medicine, Seoul, Korea. |
안 인후근 이영양증 1 예 |
이종복(Jong Bok Lee),김기창(Ki Chang Kim),범상균(Sang Gyun Bum) |
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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. |
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