Miroslav Hornak, Ph.D.
Genetics and Reproduction
Veterinary Research Institute
Hudcova 70
621 00 Brno
Czech Republic
tel.:     +420 776 850 577
 Jazyk / Language

Genetic test for Juvenile Myoclonic Epilepsy

Juvenile Myoclonic Epilepsy is recently described genetic disease in Rhodesian Ridgebacks. The disease is characterized by myoclonic seizures, which cause rapid uncontrolled muscle jerks and twitches. Muscle jerks usually affects proximal limb, trunk, head and face. Owners of affected dogs reported daily or almost daily occurrence of myoclonic seizures with a frequency of up to 150 twitches per day. Although seizures can happen at any time, they occur most commonly when the animals are relaxed, drowsy, or in first stages of sleep. Some affected dogs shows visually induced seizures e.g. by light flashes, which is described as photosensitivity. 
The disease onset is typical between 6 weeks to 18 month.

Juvenile Myoclonic Epilepsy is in Rhodesian Ridgebacks caused by a mutation (4bp deletion) in DIRAS1 gene. Approximatelly, 15% of Rhodesian ridgebacks are carriers and about 2-3% are affected. The disease is autosomal recessive and fully penetrant. It means that there is 25% risk of epilepsy for offspring of two carriers.

The genetic test for Juvenile Myoclonic Epilepsy is available.
The advantage of genetic testing is to avoid the risk of disease in a litter, if dam or sire is mutation free.The genetic test might be used for diagnostic confirmation in animals showing signs of epilepsy.

The test can be performed from 0,5-1ml collected blood or buccal swab.
If you are interested in this genetic test you can find all the information in the section order a test.