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Juvenile Myoclonic Epilepsy

Juvenile Myoclonic Epilepsy is a specific form of epilepsy first described in Rhodesian Ridgebacks, causing muscle jerks and twitches, that can progress to generalized seizures.

Key Signs

Myoclonic jerks during rest or after visual stimulus

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Juvenile Myoclonic Epilepsy

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Juvenile Myoclonic Epilepsy

Clinical signs of the disease typically emerge around 6 months of age but the age of onset can vary from as young as 6 weeks to 1.5 years of age. Clinical signs begin with myoclonic jerks/twitches or the trunk, forelimbs, and nodding of the head. The appearance can resemble severe startling or even an electric shock. Twitches of varying intensity are most commonly seen in relaxed dogs that are beginning to sleep. The frequency of these twitches can be very high, even 150 twitches per day. The ability to sleep and rest is thus impaired. Affected dogs can also be sensitive to light with visual stimulus triggering epileptic activity. Approximately 38% of affected dogs progress to having generalized tonic-clonic seizures. Biological factors, such as vaccination or heat might affect the frequency and/or initiation of clinical signs.

Antiepileptic drugs are used to reduce epileptic activity. Levitiracetam and potassium bromide seem to achieve a good response. Affected dogs should be kept in a safe environment and in a way that they do not harm themselves during epileptic activity. Seizure control can sometimes be impossible to achieve and euthanasia may be elected on welfare grounds.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the Juvenile Myoclonic Epilepsy mutation can be safely bred with a clear dog with no copies of the Juvenile Myoclonic Epilepsy mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Juvenile Myoclonic Epilepsy mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Juvenile Myoclonic Epilepsy mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene DIRAS1
Variant Deletion
Chromosome 20
Coordinate Start 56,474,665
Coordinate End 56,474,668

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Wielaender, F., Sarviaho, R., James, F., Hytönen, M. K., Cortez, M. A., Kluger, G., Koskinen, L. L. E., Arumilli, M., Kornberg, M., Bathen-Noethen, A., Tipold, A., Rentmeister, K., Bhatti, S. F. M., Hülsmeyer, V., Boettcher, I. C., Tästensen, C., Flegel, T., Dietschi, E., Leeb, T., … Lohi, H. (2017). Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proceedings of the National Academy of Sciences of the United States of America. View the article