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Lafora disease

ORPHA:501· ICD-10 G40.3

Definition

A rare, inherited, severe form of progressive myoclonus epilepsy characterized by drug-resistant epilepsy, myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents.

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Adolescent, Childhood