Juvenile Myoclonic Epilepsy (JME) – Rhodesian Ridgeback
Kodas: H335
Short description
Generalized Myoclonic Epilepsy with Photosensitivity, also known as Juvenile Myoclonic Epilepsy (JME), is a neurological disorder found in the Rhodesian Ridgeback.
General information
Generalized Myoclonic Epilepsy with Photosensitivity, also known as Juvenile Myoclonic Epilepsy (JME), is a neurological disorder found in the Rhodesian Ridgeback. The disorder causes sharp, abrupt involuntary jerking of muscles in affected dogs. The disease is caused by a recessive mutation to the gene DIRAS1.
Specifications
| Breeds | |
|---|---|
| Gene | DIRAS1 |
| Chromosome | 20 |
| Mutation | c.564_567delAGAC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | JME |
Clinical features
Myoclonic jerks and twitches start presenting in young affected dogs, anywhere between 6 weeks and 18 months of age. The jerks are severe and can be startling, occurring without any behavioral warning, though they typically occur when the dog is resting or tired. The muscles most affected are those of the upper limbs, trunk, neck and face. Seizures can occur in response to bright or flashing light.
References
Pubmed ID: 28223533
Year published: 2017
Omia ID: 2095
Omia variant ID:
Turnaround information
- 10 working days