Diseases [C] » Musculoskeletal Diseases [C05] » Muscular Diseases » Muscular Disorders, Atrophic » Muscular Dystrophies » Muscular Dystrophy, Oculopharyngeal
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Muscular Diseases » Muscular Disorders, Atrophic » Muscular Dystrophies » Muscular Dystrophy, Oculopharyngeal
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Muscular Dystrophies » Muscular Dystrophy, Oculopharyngeal
Description
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy. MeSH
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Phase 2 Indicated Drugs (1)
Organization Involved with Phase 3 Indications (8)
Organization Involved with Phase 2 Indications (2)
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UMLS Data
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