GTR Home > Conditions/Phenotypes > Lafora disease

Summary

Excerpted from the GeneReview: Progressive Myoclonus Epilepsy, Lafora Type
Lafora disease (LD) is characterized by fragmentary, symmetric, or generalized myoclonus and/or generalized tonic-clonic seizures, visual hallucinations (occipital seizures), and progressive neurologic degeneration including cognitive and/or behavioral deterioration, dysarthria, and ataxia beginning in previously healthy adolescents between ages 12 and 17 years. The frequency and intractability of seizures increase over time. Status epilepticus is common. Emotional disturbance and confusion are common at or soon after onset of seizures and are followed by dementia. Dysarthria and ataxia appear early, spasticity late. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.

Available tests

55 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: EPM2, MELF, EPM2A
    Summary: EPM2A, laforin glucan phosphatase

  • Also known as: EPM2A, EPM2B, MALIN, bA204B7.2, NHLRC1
    Summary: NHL repeat containing E3 ubiquitin protein ligase 1

Clinical features

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