Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

disorder

SNOMED 725464001CUI C4511138

Overview

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

External ophthalmoplegia, progressive

Always present (100%)HP:0000590

Limb muscle weakness

Very frequent (80-99%)HP:0003690

Poor exercise tolerance

Very frequent (80-99%)HP:0003546

Areflexia in lower limbs

Frequent (30-79%)HP:0002522

Bilateral ptosis

Frequent (30-79%)HP:0001488

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Fatigable weakness of respiratory muscles

Frequent (30-79%)HP:0030196

Feeding difficulties

Frequent (30-79%)HP:0011968

Hearing impairment

Frequent (30-79%)HP:0000365

High arched palate

Frequent (30-79%)HP:0000218

Muscle atrophy, neurogenic

Frequent (30-79%)HP:0003202

Muscle pain

Frequent (30-79%)HP:0003326

Muscle pain with exercise

Frequent (30-79%)HP:0003738

Respiratory failure due to muscle weakness

Frequent (30-79%)HP:0002747

Weakness of face

Frequent (30-79%)HP:0030319

Abnormal atrioventricular conduction

Occasional (5-29%)HP:0005150

Abnormality of balance

Occasional (5-29%)HP:0002141

Abnormality of the spinocerebellar tracts

Occasional (5-29%)HP:0003133

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Corticospinal signs

Occasional (5-29%)HP:0007256

Deficit in non-word repetition

Occasional (5-29%)HP:0002549

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Esotropia

Occasional (5-29%)HP:0000565

Loss of ambulation

Occasional (5-29%)HP:0002505

Migraine headache

Occasional (5-29%)HP:0002076

Neck flexion weakness

Occasional (5-29%)HP:0003722

Nerve damage causing decreased feeling and movement

Occasional (5-29%)HP:0007141

Psychomotor deterioration

Occasional (5-29%)HP:0002361

Related Conditions

Mitochondrial myopathy(parent)

Progressive external ophthalmoplegia(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Chronic metabolic disease(parent)

Myopathy of extraocular muscles(parent)

Quick Facts

SNOMED CT: 725464001
UMLS CUI: C4511138
Fully Specified Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.