Muscular Dystrophy, Oculopharyngeal [svalová dystrofie okulofaryngeální]

topical
3
Terms

Oculopharyngeal Dystrophy
Oculopharyngeal Muscular Dystrophy
Progressive Muscular Dystrophy, Oculopharyngeal Type

Persistent link   https://www.medvik.cz/link/D039141
Definition

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.

Annotation
/vet: coord with MUSCULAR DYSTROPHY, ANIMAL
DUI
D039141 MeSH Browser
CUI
M0335587
Previous indexing
Muscular Dystrophies (1969-2002)
History note
2003; use MUSCULAR DYSTROPHIES 2001-2002
Public note
2003; see MUSCULAR DYSTROPHIES 2001-2002

C Diseases
C05.651.534.500 Muscular Dystrophies 140
C05.651.534.500.074 Distal Myopathies 3
C05.651.534.500.300 Muscular Dystrophy, Duchenne 135
C05.651.534.500.500 Myotonic Dystrophy 95
C10.668.491 Muscular Diseases 554
C10.668.491.175.500 Muscular Dystrophies 140
C10.668.491.175.500.074 Distal Myopathies 3
C10.668.491.175.500.112 Glycogen Storage Disease Type VII
C10.668.491.175.500.149 Muscular Dystrophies, Limb-Girdle 22
C10.668.491.175.500.300 Muscular Dystrophy, Duchenne 135
C10.668.491.175.500.350 Muscular Dystrophy, Emery-Dreifuss 18
C10.668.491.175.500.450 Muscular Dystrophy, Oculopharyngeal 3
C10.668.491.175.500.500 Myotonic Dystrophy 95
C16.320.577 Muscular Dystrophies 140
C16.320.577.074 Distal Myopathies 3
C16.320.577.300 Muscular Dystrophy, Duchenne 135
C16.320.577.500 Myotonic Dystrophy 95
C16.320.577.750 Walker-Warburg Syndrome 4

Visceral myopathy familial external ophthalmoplegia Disease MeSH Browser