Svensk definition
En form av retningskänslig myoklon epilepsi, ett ärftligt, autosomalt recessivt sjukdomstillstånd. Det vanligaste debuttecknet är ett enda anfall under det andra årtiondet av livet, vilket följs av tilltagande myokloni, myoklona kramper, tonisk-klonisk kramp, fokala, occipitala anfall, intellektuell försämring, och svåra motoriska och koordinationsstörningar. De flesta drabbade blir inte äldre än 25 år. Koncentriska amyloidkroppar (Laforakroppar) påträffas i nervceller, lever, hud, ben- och muskelvävnad.
Engelsk definition
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).
Svenska synonymer
Lafora progressiv myoklonisk epilepsi — Lafora myoklonisk epilepsi
Engelska synonymer
Progressive Myoclonic Epilepsy, Lafora Type — Lafora Body Disease — Lafora Progressive Myoclonic Epilepsy — Lafora Type Progressive Myoclonic Epilepsy — Epilepsy, Progressive Myoclonic 2A — Lafora Body Disorder — Myoclonic Epilepsy of Lafora — Lafora Myoclonic Epilepsy — Epilepsy Progressive Myoclonic 2 — Lafora Progressive Myoclonus Epilepsy — Progressive Myoclonic Epilepsy Type 2 — Progressive Myoclonus Epilepsy, Lafora Type — Epilepsy, Progressive Myoclonic, Lafora — Progressive Myoclonic Epilepsy, Lafora — Lafora Body Disease, Late Onset — Late Onset Lafora Body Disease — Lafora-Body Disease, Late Onset