Search on: KEARN-SAYRE MITOCHONDRIAL CYTOPATHY 
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Descriptor English:   Kearns-Sayre Syndrome 
Descriptor Spanish:   Síndrome de Kearns-Sayre 
Descriptor Portuguese:   Síndrome de Kearns-Sayre 
Synonyms English:   CPEO with Myopathies
CPEO with Myopathy
CPEO with Ragged Red Fibers
Chronic Progressive External Ophthalmoplegia with Myopathy
Cpeo With Ragged-Red Fibers
Cytopathy, Kearn-Sayre Mitochondrial
Kearn Sayre Mitochondrial Cytopathy
Kearn Syndrome
Kearn-Sayre Mitochondrial Cytopathy
Kearns Sayre Shy Daroff Syndrome
Kearns Sayre Syndrome
Kearns Syndrome
Kearns' Syndrome
Kearns-Sayre Mitochondrial Cytopathy
Kearns-Sayre-Shy-Daroff Syndrome
Mitochondrial Cytopathy, Kearn-Sayre
Myopathies, CPEO with
Myopathy, CPEO with
Oculocraniosomatic Syndrome
Oculocraniosomatic Syndromes
Ophthalmoplegia Plus Syndrome
Ophthalmoplegia Plus Syndromes
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Ophthalmoplegia-Plus Syndrome
Sayre Syndrome, Kearns
Syndrome, Kearns
Syndrome, Kearns Sayre
Syndrome, Kearns'
Syndrome, Kearns-Sayre
Syndrome, Kearns-Sayre-Shy-Daroff
Syndrome, Oculocraniosomatic
Syndrome, Ophthalmoplegia Plus  
Tree Number:   C05.651.460.700.500
C10.292.562.750.250.500
C10.597.622.447.511.500
C10.668.491.500.700.500
C11.590.472.250.500
C11.768.585.658.500.627
C14.280.238.510
C18.452.660.410
C18.452.660.560.700.500
C23.888.592.636.447.511.500
Definition English:   A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) 
History Note English:   2010 (1983) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   28115 
Unique Identifier:   D007625 

Occurrence in VHL:
 

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