Overview
Progressive myoclonic epilepsy type 6 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.
Absent deep tendon reflexes
Always present (100%)HP:0001284
Ataxia
Always present (100%)HP:0001251
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Jerking
Always present (100%)HP:0001336
Loss of ambulation
Always present (100%)HP:0002505
Scoliosis
Always present (100%)HP:0002650
EEG with spike-wave complexes
Frequent (30-79%)HP:0010850
Generalized non-motor (absence) seizure
Frequent (30-79%)HP:0002121
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Memory loss
Frequent (30-79%)HP:0002354
Sudden loss of muscle tone
Frequent (30-79%)HP:0010819
Tremor
Frequent (30-79%)HP:0001337
Myoclonic status epilepticus
Occasional (5-29%)HP:0032667
Pes cavus
Occasional (5-29%)HP:0001761
Difficulty articulating speech
HP:0001260
Gait disturbance
HP:0001288
Quick Facts
- SNOMED CT
- 783062001
- UMLS CUI
- C5190805
- Fully Specified Name
- Progressive myoclonic epilepsy type 6 (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.