Overview
Oculopharyngeal distal 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.
Bilateral ptosis
Always present (100%)HP:0001488
Brain wasting
Always present (100%)HP:0012444
Cardiomyopathy, hypertrophic
Always present (100%)HP:0001639
Difficulty articulating speech
Always present (100%)HP:0001260
Distal muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Dysphonia
Always present (100%)HP:0001618
Laboured breathing
Always present (100%)HP:0002098
Muscle spasm
Always present (100%)HP:0003394
Muscle weakness
Always present (100%)HP:0001324
Rimmed vacuoles
Always present (100%)HP:0003805
Abnormality of facial musculature
Very frequent (80-99%)HP:0000301
Breathy speech
Very frequent (80-99%)HP:0008376
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
External ophthalmoplegia
Very frequent (80-99%)HP:0000544
External ophthalmoplegia, progressive
Very frequent (80-99%)HP:0000590
Extraocular muscle palsy
Very frequent (80-99%)HP:0000597
Eye drop
Very frequent (80-99%)HP:0000508
Progressive ptosis
Very frequent (80-99%)HP:0007838
Weakness of face
Very frequent (80-99%)HP:0030319
Weight loss
Very frequent (80-99%)HP:0001824
Abnormality of pharynx musculature
Frequent (30-79%)HP:0430015
Abnormality of the cerebral white matter
Frequent (30-79%)HP:0002500
Bowing of the vocal cords
Frequent (30-79%)HP:0008756
Deglutition disorder
Frequent (30-79%)HP:0002015
Distal muscle weakness in lower limbs
Frequent (30-79%)HP:0009053
Distal upper limb amyotrophy
Frequent (30-79%)HP:0007149
EMG: myotonic discharges
Frequent (30-79%)HP:0100284
High arched palate
Frequent (30-79%)HP:0000218
Hoarse voice due to vocal cord paresis
Frequent (30-79%)HP:0001604
Impaired oropharyngeal swallow response
Frequent (30-79%)HP:0031162
Related Conditions
Distal muscular dystrophy(parent)
Disorder of pharynx(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of the visual system(parent)
Ptosis of eyelid(parent)
Chronic respiratory disease(parent)
Chronic disorder of digestive system(parent)
Chronic disease of ocular adnexa(parent)
Musculoskeletal disorder of the neck(parent)
Quick Facts
- SNOMED CT
- 763829004
- UMLS CUI
- C1834014
- Fully Specified Name
- Oculopharyngodistal 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.