Juvenile Myoklonische Epilepsie (JME)
Juvenile myoclonic epilepsy (JME)
General description
JME in Rhodesian Ridgebacks is characterized by a particular epilepsy phenotype of frequent myoclonic jerks with a mean onset at 6 months of age. The dogs suffer from automatic and sudden twitches notably occuring in recumbent and relaxed situations.
Breeds
Rhodesian Ridgeback
Order details
| Test number | 8557 |
| Abbreviation | JME |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 6 months |
| Causality | causally |
| Gene | DIRAS1 |
| Mutation | DEL |
| Literature | OMIA:002095-9615 |
Detailed description
JME in Rhodesian Ridgebacks is characterized by a particular epilepsy phenotype of frequent myoclonic jerks with a mean onset at 6 months of age. The dogs suffer from automatic and sudden twitches notably occuring in recumbent and relaxed situations. These muscle contractions vary in intensity (subtle to vigorous) and frequency. In most cases, jerks last only one second but occur in series. Some dogs appear confused and scared during these events. The attacks arise daily in over 85% of cases. The disease progress to generalized tonic-clonic seizures in about 40% of affected dogs. Treatment with antiepileptic drugs can bring improvement of symptoms.
