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Observations placeholder

Lafora epilepsy



Type of Spiritual Experience


Number of hallucinations: 1


A description of the experience

Progressive Myoclonus Epilepsy, Lafora Type - Jansen AC, Andermann E; GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2007 Dec 28.

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.

DIAGNOSIS/TESTING:   Diagnosis is usually based on clinical and EEG findings and detection of two mutations in one of the two genes known to be associated with LD: EPM2A or NHLRC1(EPM2B). On rare occasion skin biopsy to detect pathognomonic Lafora bodies is necessary to confirm the diagnosis.

MANAGEMENT:   Treatment of manifestations: Antiepileptic drugs (AEDs) are effective against generalized seizures.

Prevention of secondary complications: Overmedication in treating drug-resistant myoclonus is a risk. Gastrostomy feedings can decrease the risk of aspiration pneumonia when disease is advanced.

Surveillance: clinical and psychosocial evaluation at three- to six-month intervals throughout the teenage years.

Agents/circumstances to avoid: phenytoin, and possibly carbamazepine, oxcarbazepine, and lamotrigine.

GENETIC COUNSELING:   Lafora disease is inherited in an autosomal recessive manner. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for at-risk pregnancies are possible if the disease-causing mutations in the family are known

The source of the experience


Concepts, symbols and science items



Science Items

Activities and commonsteps



Epilepsy drugs


Inherited genes