loading...| Preferred Name |
progressive external ophthalmoplegia |
| Synonyms |
PEO progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [Ambiguous] chronic progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [ambiguous] PEO syndrome Progressive external ophthalmoplegia (disorder) |
| Definitions |
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). 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) |
| ID |
http://www.ebi.ac.uk/efo/EFO_0002509 |
| database_cross_reference |
HP:0000590 GARD:0004503 SNOMEDCT:46252003 SCTID:46252003 ICD10CM:H49.4 MONDO:0005181 ICD9:378.72 MedDRA:10036802 MESH:D017246 Orphanet:520820 DOID:12558 |
| definition |
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). 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) |
| definition_citation |
http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia |
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_520820 http://identifiers.org/mesh/D017246 http://identifiers.org/snomedct/46252003 |
| has_exact_synonym |
PEO progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [Ambiguous] chronic progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [ambiguous] PEO syndrome Progressive external ophthalmoplegia (disorder) |
| has_related_synonym |
chronic progressive external ophthalmoplegia |
| id |
EFO:0002509 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
| label |
progressive external ophthalmoplegia |
| notation |
EFO:0002509 |
| prefLabel |
progressive external ophthalmoplegia |
| term editor |
James Malone Ele Holloway Sirarat Sarntivijai |
| subClassOf |