Progressive myoclonic epilepsy

Progressive myoclonic epilepsy includes several diseases such as Unverricht-Lündborg syndrome and Lafora disease. They are characterized by progressive neurological deterioration, dementia, myoclonic seizures (abrupt, brief, involuntary movements), sometimes absences and generalized tonic-clonic seizures. They usually begin in late childhood or adolescence, between 6 and 20 years of age, sometimes with signs of visual impairment. Once manifested, the progression is progressive with the appearance of myoclonic seizures. Cognitive impairment, ataxia and sometimes blindness appear progressively. Medications have limited efficacy and seizures usually cannot be controlled.

Diagnosis is based on clinical manifestations and evolution, and can be confirmed by biopsy and genetic studies.