Progressive myoclonus epilepsy type 7

disorder

SNOMED 1208939001CUI C4015420

Overview

Progressive myoclonus epilepsy type 7 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.

EEG with generalized epileptiform discharges

Always present (100%)HP:0011198

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

Involuntary jerking movements

Always present (100%)HP:0001336

Myoclonic seizure

Very frequent (80-99%)HP:0032794

Intellectual deterioration

Frequent (30-79%)HP:0001268

Ataxia

Occasional (5-29%)HP:0001251

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Tremor

HP:0001337

Related Conditions

Autosomal dominant hereditary disorder(parent)

Progressive myoclonic epilepsy(parent)

Hereditary disorder of nervous system(parent)

Chronic brain syndrome(parent)

Movement disorder(parent)

Quick Facts

SNOMED CT: 1208939001
UMLS CUI: C4015420
Fully Specified Name: Progressive myoclonic epilepsy type 7 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.