RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Synonyms:
exact_synonym:
EPM2; EPM2A; LBD; Lafora Body Disease; Lafora Body Disorder; Lafora Myoclonic Epilepsy; Lafora Progressive Myoclonic Epilepsy; Lafora Progressive Myoclonus Epilepsy; Lafora Type Progressive Myoclonic Epilepsy; Lafora's disease; MELF; epilepsy progressive myoclonic 2; late-onset Lafora body disease; myoclonic epilepsy of Lafora; myoclonus epilepsy of Lafora; progressive myoclonic epilepsy 2A; progressive myoclonic epilepsy type 2; progressive myoclonus epilepsy, Lafora type