loading...| Preferred Name | progressive external ophthalmoplegia | |
| Synonyms |
chronic progressive external ophthalmoplegia progressive external ophthalmoplegia PEO syndrome Progressive external ophthalmoplegia (disorder) chronic progressive external ophthalmoplegia [ambiguous] chronic progressive external ophthalmoplegia [Ambiguous] PEO |
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| 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) |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0002509 |
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| database_cross_reference |
ICD10CM:H49.4 MedDRA:10036802 icd11.foundation:1698427219 UMLS:C0162674 MEDGEN:102439 SCTID:46252003 ICD9:378.72 MESH:D017246 MONDO:0005181 SNOMEDCT:46252003 Orphanet:520820 NANDO:1200174 DOID:12558 GARD:4503 HP:0000590 |
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| 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) |
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| definition_citation |
http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia |
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| exactMatch |
http://identifiers.org/medgen/102439 http://www.orpha.net/ORDO/Orphanet_520820 http://purl.obolibrary.org/obo/DOID_12558 http://identifiers.org/mesh/D017246 http://identifiers.org/snomedct/46252003 |
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| has_exact_synonym |
progressive external ophthalmoplegia PEO syndrome Progressive external ophthalmoplegia (disorder) chronic progressive external ophthalmoplegia [ambiguous] chronic progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [Ambiguous] PEO |
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| has_related_synonym |
chronic progressive external ophthalmoplegia |
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| id |
EFO:0002509 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
progressive external ophthalmoplegia |
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| notation |
EFO:0002509 |
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| preferred label |
progressive external ophthalmoplegia |
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| prefLabel |
progressive external ophthalmoplegia |
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| term editor |
Sirarat Sarntivijai Ele Holloway James Malone |
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| subClassOf |