Epileptic Disorders
MENUJuvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease Volume 21, issue 4, August 2019
TEST YOURSELF
(1) What is the criterion for a diagnosis of Unverricht-Lundborg disease (ULD) in a patient with juvenile myoclonic epilepsy (JME)?
(2) Does the number of dodecamers within the cystatin B (CSTB) gene determine the severity of the ULD phenotype?
(3) What are the most suggestive features of myoclonus in ULD relative to JME?
Answers
(1) The diagnosis of ULD in a patient with JME is based on careful examination that reveals discrete atypical signs of JME, such as cerebellar signs (dysarthria, etc.).
(2) No.
(3) ULD: diffuse, occurring over the entire day (with maximal myoclonus in the morning and in the latter part of the day, when patients are tired).
JME: more PORM (perioral reflex myoclonus), occurring mainly in the morning (on awakening).