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Descriptor English: Muscular Dystrophy, Oculopharyngeal
Descriptor Spanish: Distrofia Muscular Oculofaríngea
Descriptor distrofia muscular oculofaríngea
Scope note: Enfermedad hereditaria, autosómica dominante que se presenta tardíamente en la vida y se caracteriza por DISFAGIA y ptosis palpebral progresiva. Las mutaciones del gen de la PROTEÍNA II DE UNIÓN A POLI(A) se han asociado a la distrofia de los músculos oculofaríngeos.
Descriptor Portuguese: Distrofia Muscular Oculofaríngea
Descriptor French: Dystrophie musculaire oculopharyngée
Entry term(s): Dystrophies, Oculopharyngeal Muscular
Dystrophy, Oculopharyngeal Muscular
Muscular Dystrophies, Oculopharyngeal
Oculopharyngeal Dystrophy
Oculopharyngeal Muscular Dystrophies
Oculopharyngeal Muscular Dystrophy
Progressive Muscular Dystrophy, Oculopharyngeal Type
Tree number(s): C05.651.534.500.450
C10.668.491.175.500.450
C16.320.577.450
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D039141
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.
Annotation: /vet: coord with MUSCULAR DYSTROPHY, ANIMAL
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Muscular Dystrophies (1969-2002)
Public MeSH Note: 2003; see MUSCULAR DYSTROPHIES 2001-2002
History Note: 2003; use MUSCULAR DYSTROPHIES 2001-2002
Related: Poly(A)-Binding Protein II MeSH
DeCS ID: 37274
Unique ID: D039141
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2003/01/01
Date of Entry: 2002/07/03
Revision Date: 2013/07/08
Muscular Dystrophy, Oculopharyngeal - Preferred
Concept UI M0335587
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.
Preferred term Muscular Dystrophy, Oculopharyngeal
Entry term(s) Dystrophies, Oculopharyngeal Muscular
Dystrophy, Oculopharyngeal Muscular
Muscular Dystrophies, Oculopharyngeal
Oculopharyngeal Dystrophy
Oculopharyngeal Muscular Dystrophies
Oculopharyngeal Muscular Dystrophy
Progressive Muscular Dystrophy, Oculopharyngeal Type



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