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progressive external ophthalmoplegia

Disease Summary
Associated Targets (20)
Tbio

11

Tchem

6

Tclin

2

Tdark

1


GARD Rare
Mondo Description 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)
Mondo Term and Equivalent IDs
MONDO:0005181:  progressive external ophthalmoplegia
COHD:379027: 
EFO:0002509: 
GARD:0004503: 
ICD10:H49.4: 
MESH:D017246: 
Orphanet:520820: 
SCTID:46252003: