Overview
Progressive myoclonic epilepsy type 8 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.
Action myoclonus
Always present (100%)HP:0034360
Appendicular ataxia
Always present (100%)HP:0002070
Brainstem atrophy
Always present (100%)HP:0007366
Choreoathetosis
Always present (100%)HP:0001266
Degeneration of cerebellum
Always present (100%)HP:0001272
Difficulty articulating speech
Always present (100%)HP:0001260
Falls
Always present (100%)HP:0002527
Gait disturbance
Always present (100%)HP:0001288
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Instability or lack of coordination of central trunk muscles
Always present (100%)HP:0002078
Involuntary jerking movements
Always present (100%)HP:0001336
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Progressive dementia
Always present (100%)HP:0000726
Psychomotor development deficiency
Always present (100%)HP:0001263
Speech delay
Always present (100%)HP:0000750
Worsening neurological symptoms
Always present (100%)HP:0002344
Photoparoxysmal response on EEG
Frequent (30-79%)HP:0010852
Dull intelligence
HP:0001249
Quick Facts
- SNOMED CT
- 783139000
- UMLS CUI
- C5190825
- Fully Specified Name
- Progressive myoclonic epilepsy type 8 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.