oculopharyngeal dystrophy
- oculopharyngeal dystrophy
- oculopharyngeal muscular dystrophy an inherited disorder characterized by weakness of the external ocular and pharyngeal muscles that causes ptosis, ophthalmoplegia, and dysphagia; weakness of trunk and limb muscles may follow. Onset is in adulthood. It is a triplet repeat disorder associated with expansion of GCG triplet repeats in the PABP2 gene (locus: 14q11.2-q13), which encodes a specific poly A–binding protein; the altered proteins form aggregates and appear to be associated with accumulation of filamentous inclusions in muscle nuclei. Inheritance can be either autosomal dominant or recessive, differing as a function of the number of repeats. Called also oculopharyngeal syndrome.
Medical dictionary.
2011.
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