OrphanDrug
OrphanDrug
Pharma Knowledge Base

Lafora disease

ICD-10: G40.3MeSH: D020192ORPHA: 1949

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

type of rare, inherited, severe, progressive myoclonic epilepsy

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Lafora disease, sourced from HPO and Orphanet clinical annotations.

Focal clonic seizureFocal-onset seizureFocal tonic seizureFocal EEG discharges with secondary generalizationNeonatal seizureApneaClonusGeneralized tonic seizureFocal autonomic seizureCircumoral cyanosisLimb myoclonusGastroesophageal refluxAxial hypotoniaSimple febrile seizureFacial ticsStatus epilepticusIncreased theta frequency activity in EEGHallucination

Classification & Codes

ICD-10 Code

G40.3

MeSH Code

D020192

Orphanet Code

ORPHA:1949
Lafora disease
ICD-10G40.3
MeSHD020192
OrphanetORPHA:1949
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO