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Juvenile 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?

 

 

 

 

 

 

 

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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).

 

 

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