Enfermedad de lafora pdf

Laforakrankheit epilepsie, progressive, myoklonische, laforatyp progressive myoklonische epilepsie, laforatyp. Lafora disease genetic and rare diseases information. This disease presents no sexrelated differences and it is predominantly found in southern european countries. This is followed by progressive myoclonus, myoclonic seizures, tonicclonic seizures, focal occipital seizures, intellectual. If you have problems viewing pdf files, download the latest version of adobe reader. Issn lafora disease ld is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus andor generalized seizures, visual hallucinations. They are characterised by different types of epileptic seizures mainly myoclonic, intellectual impairment, and other clinical manifestations mainly involving the cerebellum. Sep 29, 2015 the signs and symptoms of lafora disease generally appear during late childhood or adolescence.

Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood. Matilde ruiz garcia sesion anatomoclinica acta pediatr mex 2005. A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. Dr rodriguez lafora was the first to describe lafora disease in 1911. The most common feature of lafora disease is recurrent seizures. Longitudinal eeg studies in a kindred with lafora disease. The most common presenting feature is a single seizure in the second decade of life. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. For language access assistance, contact the ncats public information officer. The signs and symptoms of lafora disease generally appear during late childhood or adolescence. The term progressive myoclonus epilepsy pme refers to an array of clinical entities with heterogeneous causes. Lafora disease genetic and rare diseases information center.