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What is Lafora Disease?

Lafora disease (OMIM # 254780, ORPHA501) is a very rare form of Progressive Myoclonus Epilepsy, with autosomal recessive inheritance. Prevalence depends on geographical area and level of endogamy in the population. It usually begins in adolescence with epileptic seizures (commonly visual seizures) and myoclonus, and is followed by progressive neurological deterioration. The evolution is usually severe although some mutations are associated with a better prognosis and a slow evolution. A characteristic sign is the presence of the so-called Lafora bodies, which are abnormal aggregates of polyglucosans that accumulate in numerous organs, including heart, skeletal muscle, liver and brain. Lafora disease is due to mutations in two genes, EPM2A and EPM2B, which encode proteins laforin and malin, both related to glycogen metabolism.

The goal of the LD-Registry is to build a large and rich database of clinical information that will serve for future studies aimed at developing tools and biomarkers of progression and prognosis, identifying clinically relevant phenotypic characteristics and establishing clearly defined endpoints for interventional studies.

These objectives can be achieved through the identification of as many patients with Lafora disease as possible and prospectively monitoring the natural evolution.

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