Diagnosis and Symptomatology of Lafora's Disease

Abstract

Lafora disease (LD) is a rare and neurodegenerative illness, which is classified within the group of progressive myoclonic epilepsies (PMEs) and is initially presented from 6 to 20 years of age. Today neither a diagnosis prior to the onset nor an effective treatment are available. The 100% of patients have a fatal end approximately within 10 years after manifestations’ start. The aim of this study is to analyze physiopathological basis of the disease, and the diagnostic strategies followed nowadays. Also, an informative diptych and an algorithm that might provide support to diagnosis by non-specialized professionals, have been proposed. In the present work it has been concluded that LD is an autosomal recessive disease, caused by dysfunctional mutations in the gene EPM2A or NHLRC1 generally. These codify for the complex’s proteins Laforin-Malin, whose dysfunction promotes glycogen precipitation into Lafora Bodies (LBs), the pathogenic cause. This disease is heterogeneous genetically, but homogeneous phenotypically, although there are pathogenic variants of its progression, as mild LD and early-onset LD. Its low incidence implies unknowledge between professionals and a complicated diagnosis, which requires three levels of evidence: clinical manifestations’ presence; electroencephalogram (EEG) and LB’s observation; and finally, genetic confirmation. Some tests as EEG and axillary skin biopsy might be useful for early diagnosis, so as to establish a preventive treatment. Summarizing, the lack of experimental samples and experts difficults the investigation, but we are moving towards effective treatment.