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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophy, Oculopharyngeal
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Oculopharyngeal
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Oculopharyngeal

Preferred term

Muscular Dystrophy, Oculopharyngeal  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Oculopharyngeal Dystrophy
  • Oculopharyngeal Muscular Dystrophy
  • Progressive Muscular Dystrophy, Oculopharyngeal Type

Note

  • /vet: coord with MUSCULAR DYSTROPHY, ANIMAL

Scope note

  • 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.

History note

  • 2003; use MUSCULAR DYSTROPHIES 2001-2002

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URI

http://www.yso.fi/onto/mesh/D039141

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