Progressive external ophthalmoplegia, myopathy, emaciation syndrome

disorder

SNOMED 764733009CUI C4707098

Overview

Progressive external ophthalmoplegia, myopathy, emaciation syndrome 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

Very frequent (80-99%)HP:0000590

Decreased mitochondrial number

Frequent (30-79%)HP:0040013

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty breathing

Frequent (30-79%)HP:0002094

Dysphonia

Frequent (30-79%)HP:0001618

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hunched back

Frequent (30-79%)HP:0002808

Hypernasal voice

Frequent (30-79%)HP:0001611

Hyporeflexia

Frequent (30-79%)HP:0001265

Muscle atrophy, generalised

Frequent (30-79%)HP:0003700

Myopathy

Frequent (30-79%)HP:0003198

Nausea

Frequent (30-79%)HP:0002018

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Predisposition to infections

Frequent (30-79%)HP:0002719

Ragged-red muscle fibers

Frequent (30-79%)HP:0003200

Respiratory failure

Frequent (30-79%)HP:0002878

Spinal neuroarthropathy

Frequent (30-79%)HP:0008443

Spinal rigidity

Frequent (30-79%)HP:0003306

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Tired easily

Frequent (30-79%)HP:0003388

Weakness of face

Frequent (30-79%)HP:0030319

Kidney stones

Occasional (5-29%)HP:0000787

Loss of appetite

Occasional (5-29%)HP:0004396

Respiratory failure due to muscle weakness

Occasional (5-29%)HP:0002747

Cardiac arrhythmias

Very rare (1-4%)HP:0011675

Decreased size of cranium

Very rare (1-4%)HP:0000252

Diarrhea

Very rare (1-4%)HP:0002014

Dull intelligence

Very rare (1-4%)HP:0001249

Infratentorial atrophy

Very rare (1-4%)HP:0001272

Related Conditions

Mitochondrial myopathy(parent)

Progressive external ophthalmoplegia(parent)

Metabolic encephalopathy(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Chronic brain syndrome(parent)

Myopathy of extraocular muscles(parent)

Chronic metabolic disease(parent)

Quick Facts

SNOMED CT: 764733009
UMLS CUI: C4707098
Fully Specified Name: Progressive external ophthalmoplegia, myopathy, emaciation syndrome (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.