Unverricht-Lundborg disease 

Genes (full coding
region):		 EPM1(CSTB)
Lab method: Sanger sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling

Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus) and tonic-clonic seizures. Episodes of myoclonus may be brought on by exercise, stress, light, or other stimuli (triggers). Over time, people with ULD develop ataxia, lack of coordination, intention tremor, and difficulty speaking (dysarthria). People with ULD may also develop emotional sensitivity, depression, and a mild impairment of intellectual performance over time. The disease is characterized by the onset of neurodegeneration between the ages of 6 and 15 years. Although it is considered progressive myoclonic epilepsy, it differs from other forms of the disease in that it appears to progress only during adolescence, and the myoclonus and ataxia worsen rapidly within the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve.

ULD is caused by genetic changes in the CSTB gene and inheritance is autosomal recessive.