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Unverricht-Lundborg disease clinical manifestations

This 18-year-old girl has Unverricht-Lundborg disease that began at 12 years of age with action myoclonus and generalized tonic-clonic seizures. Despite major antimyoclonic therapy, including valproate, phenobarbital, benzodiazepine,s and piracetam 27 g/day, she is markedly handicapped by major myoclonic jerks elicited by action, intention of action, or even any cutaneous stimuli. There is also a pseudo-cerebellar syndrome with the finger-to-nose maneuver and marked photosensitivity. (Courtesy of Professor Pierre Thomas from: The Educational Kit on Epilepsies. Volume 2: Idiopathic Generalised Epilepsies With Myoclonic Jerks. Oxford: Medicinae, 2007.)