Search on: OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL 
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Descriptor English:   Ophthalmoplegia, Chronic Progressive External 
Descriptor Spanish:   Oftalmoplejía Externa Progresiva Crónica 
Descriptor Portuguese:   Oftalmoplegia Externa Progressiva Crônica 
Synonyms English:   CPEO
Graefe Disease
Mitochondrial Ocular Myopathy
Ocular Muscular Dystrophy  
Tree Number:   C05.651.460.700
C10.292.562.750.250
C10.292.562.775
C10.597.622.447.511
C10.668.491.500.700
C11.590.472.250
C11.590.641
C18.452.660.560.700
C23.888.592.636.447.511
Definition English:   A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) 
Indexing Annotation English:   this opthalmoplegia with cardiomyopathy & retinitis pigmentosa = KEARNS SYNDROME; DF: note short X ref
History Note English:   93 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RA radiography
RI radionuclide imaging RT radiotherapy
RH rehabilitation SU surgery
TH therapy US ultrasonography
UR urine VE veterinary
VI virology  
Record Number:   30631 
Unique Identifier:   D017246 

Occurrence in VHL:
 

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