LAFORA DISEASE

Course overview

LAFORA DISEASE IS A TYPE OF PROGRESSIVE MYOCLONIC EPILEPSY THAT IS INHERITED IN AN AUTOSOMAL RECESSIVE MANNER AND TYPICALLY PRESENTS IN PREVIOUSLY HEALTHY ADOLESCENTS WITH NEW ONSET SEIZURES, WHICH ARE USUALLY MYOCLONIC, OCCIPITAL, OR GENERALIZED TONIC-CLONIC. DEMENTIA, ATAXIA, AND DYSARTHRIA PROGRESS RAPIDLY, MYOCLONUS WORSENS TO THE POINT WHERE IT IS NEARLY CONSTANT, AND INTRACTABLE EPILEPSY DEVELOPS. DEATH USUALLY OCCURS WITHIN 10 YEARS OF INITIAL PRESENTATION OF SYMPTOMS. THIS ACTIVITY ADDRESSES THE PRESENTATION, EVALUATION, AND MANAGEMENT OF LAFORA DISEASE AND EXAMINES THE ROLE OF AN INTERPROFESSIONAL TEAM APPROACH TO THE CARE OF AFFECTED PATIENTS.