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Progressive external ophthalmoplegia

disorder
SNOMED 46252003CUI C0162674

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Ophthalmoplegia, Chronic Progressive External" from the MEDLINE/PubMed database.

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Mutation in3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.
[object Object], [object Object], [object Object] et al. · Int J Environ Res Public Health · 2020
PMID: 32580277Meta-AnalysisFull text (PMC)
CPEO and KSS differ in the percentage and location of the mtDNA deletion.
[object Object], [object Object], [object Object] et al. · Mitochondrion · 2009
PMID: 19410662Meta-Analysis
Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy.
[object Object], [object Object], [object Object] et al. · Braz J Med Biol Res · 2015
PMID: 25714882RCTFull text (PMC)
Tetracycline treatment in patients with progressive external ophthalmoplegia.
[object Object], [object Object], [object Object] et al. · Acta Neurol Scand · 2011
PMID: 21649612RCT
[Observation on therapeutic effect of acupuncture combined with western medicine on paralytic strabismus].
[object Object], [object Object], [object Object] et al. · Zhongguo Zhen Jiu · 2008
PMID: 18630533RCT
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.
[object Object], [object Object], [object Object] et al. · Neurogenetics · 2025
PMID: 39960500Review
Progressive external ophthalmoplegia.
[object Object], [object Object] · Handb Clin Neurol · 2023
PMID: 36813323ReviewFull text (PMC)
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.
[object Object], [object Object], [object Object] et al. · J AAPOS · 2023
PMID: 37931836Review
Eyelid ptosis (Blepharoptosis) for the primary care practitioner.
[object Object], [object Object] · Dis Mon · 2020
PMID: 32605719Review
The neuro-ophthalmology of inherited myopathies.
[object Object], [object Object], [object Object] · Curr Opin Ophthalmol · 2019
PMID: 31436541Review

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

External ophthalmoplegia, progressive
Very frequent (80-99%)HP:0000590
Muscle abnormality related to mitochondrial dysfunction
Very frequent (80-99%)HP:0003800
Abnormal electromyography finding
Frequent (30-79%)HP:0003457
Abnormal mitochondria in muscle tissue
Frequent (30-79%)HP:0008316
Axial muscle weakness
Frequent (30-79%)HP:0003327
Brisk deep tendon reflexes
Frequent (30-79%)HP:0001348
Eyelid ptosis
Frequent (30-79%)HP:0000508
Hypothyroidism
Frequent (30-79%)HP:0000821
Increased blood lactate
Frequent (30-79%)HP:0002151
Mildly elevated creatine kinase
Frequent (30-79%)HP:0008180
Muscle weakness, progressive, proximal
Frequent (30-79%)HP:0009073
Ragged-red muscle fibers
Frequent (30-79%)HP:0003200
Respiratory failure due to muscle weakness
Frequent (30-79%)HP:0002747
Restrictive respiratory disease
Frequent (30-79%)HP:0002091
Depression
Occasional (5-29%)HP:0000716
Mental retardation, mild
Occasional (5-29%)HP:0001256

Quick Facts

SNOMED CT
46252003
UMLS CUI
C0162674
Fully Specified Name
Progressive external ophthalmoplegia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
16
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.