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- W3025249265 abstract "Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is usually transmitted as an autosomal dominant trait and a rarer allelic autosomal recessive form has also been observed. Both forms are caused by short (GCN)11–17 expansions in the polyadenylate-binding protein nuclear 1 gene (PABPN1), localized on chromosome 14q11.2. OPMD usually manifests itself in the fifth or sixth decade by eyelid ptosis and dysphagia. Later, all extraocular and other voluntary muscles may become affected. In advanced stages of the disease, the eyelids become very thin and transparent. The forehead is permanently wrinkled, the eyebrows are raised, and the supraorbital ridges appear prominent. Initially, OPMD is often restricted to the levator palpebrae and pharyngeal muscles. As the disease progresses, there may be impairment of extraocular movements, occasionally associated with diplopia; nevertheless, complete external ophthalmoplegia is infrequent. Involvement of the orbicularis oculi may also occur. The intrinsic eye muscles are always spared and retinal function is not affected. The dysphagia is noticed first for solid foods and progresses insidiously." @default.
- W3025249265 created "2020-05-21" @default.
- W3025249265 creator A5030179389 @default.
- W3025249265 date "2011-01-01" @default.
- W3025249265 modified "2023-10-03" @default.
- W3025249265 title "Oculopharyngeal muscular dystrophy" @default.
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