Progressive myoclonus epilepsy with dystonia

disorder

SNOMED 763349002CUI C4706413

Overview

Progressive myoclonus epilepsy with dystonia 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.

Corticospinal signs

Very frequent (80-99%)HP:0007256

Dystonic movements

Very frequent (80-99%)HP:0001332

Jerking

Very frequent (80-99%)HP:0001336

Recurrent URI

Very frequent (80-99%)HP:0002788

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed CNS myelination

Frequent (30-79%)HP:0002188

EEG with irregular generalised spike and wave complexes

Frequent (30-79%)HP:0001326

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalized low muscle tone in neonate

Frequent (30-79%)HP:0008935

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Loss of milestones

Frequent (30-79%)HP:0002376

Prolonged seizure

Frequent (30-79%)HP:0002133

Abnormal visual behaviour for age

Occasional (5-29%)HP:0025152

Cognitive delay

Occasional (5-29%)HP:0001263

Diffuse cerebellar atrophy

Occasional (5-29%)HP:0100275

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

Excessive daytime somnolence

Occasional (5-29%)HP:0001262

Extrapyramidal syndrome

Occasional (5-29%)HP:0002071

Hemiparesis

Occasional (5-29%)HP:0001269

Paralysis on one side of body

Occasional (5-29%)HP:0002301

Optic atrophy

Very rare (1-4%)HP:0000648

Related Conditions

Dystonia(parent)

Recessive hereditary disorder (autosomal)(parent)

Progressive myoclonic epilepsy(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 763349002
UMLS CUI: C4706413
Fully Specified Name: Progressive myoclonic epilepsy with dystonia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.