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ORPHA:501Disease
Also called EPM2 · PME type 2 · Progressive myoclonic epilepsy type 2 · Progressive myoclonus epilepsy type 2
What it is
A rare, inherited, severe form of progressive myoclonus epilepsy characterized by drug-resistant epilepsy, myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents.
Key facts
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
19- Ataxia
- Confusion
- Dementia
- Depression
- Dysarthria
- Emotional lability
- Erratic myoclonus
- Gait disturbance
- Generalized myoclonic seizure
- Giant somatosensory evoked potentials
- Headache
- Hypsarrhythmia
- Inability to walk
- Mental deterioration
- Nasogastric tube feeding
- Recurrent aspiration pneumonia
- Spasticity
- Status epilepticus
- Visual hallucinations
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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