Category:Lafora Progressive Myoclonic Epilepsy
From NeuroLex
| Name: | Lafora Progressive Myoclonic Epilepsy |
| 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 (MeSH). |
| Synonym(s): | Lafora Type Progressive Myoclonic Epilepsy, Late Onset Lafora Body Disease, Lafora Body Disease, Lafora Disease |
| Super-category: | Progressive Myoclonic Epilepsy |
| Defining citation: | Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110 |
| Id: | birnlex_12723 |
| Link to OWLRDF: | Download this content as OWL/RDF |
