Lafora disease

disorder

SNOMED 230425004CUI C0751783

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Lafora bodies

Always present (100%)HP:0100318

Epilepsy

Very frequent (80-99%)HP:0001250

Ataxia

Frequent (30-79%)HP:0001251

Confusion

Frequent (30-79%)HP:0001289

Depressive episode

Frequent (30-79%)HP:0000716

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Emotional lability

Frequent (30-79%)HP:0000712

Erratic myoclonus

Frequent (30-79%)HP:0025357

Gait disturbance

Frequent (30-79%)HP:0001288

Giant somatosensory evoked potentials

Frequent (30-79%)HP:0001312

Headache

Frequent (30-79%)HP:0002315

Hypsarrhythmia by EEG

Frequent (30-79%)HP:0002521

Inability to walk

Frequent (30-79%)HP:0002540

Intellectual deterioration

Frequent (30-79%)HP:0001268

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Nasogastric tube feeding

Frequent (30-79%)HP:0040288

Progressive dementia

Frequent (30-79%)HP:0000726

Prolonged seizure

Frequent (30-79%)HP:0002133

Recurrent aspiration pneumonia

Frequent (30-79%)HP:0002100

Visual hallucination

Frequent (30-79%)HP:0002367

Atypical absence

Occasional (5-29%)HP:0007270

Brain wasting

Occasional (5-29%)HP:0012444

Complex partial seizures

Occasional (5-29%)HP:0002384

Drop attacks

Occasional (5-29%)HP:0010819

Focal seizures

Occasional (5-29%)HP:0007359

Focal sensory seizure with visual features

Occasional (5-29%)HP:0011165

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hepatic failure

Occasional (5-29%)HP:0001399

Related Conditions

Progressive myoclonic epilepsy(parent)

Quick Facts

SNOMED CT: 230425004
UMLS CUI: C0751783
Fully Specified Name: Lafora disease (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.