Lafora-Epilepsie
Lafora disease
General description
Lafora disease is an autosomal recessive inherited glygogen metabolism disorder that causes progressive myoclonic epilepsy. The symptoms of this disease are: poor vision/blindness, generalized tonic clonic seizures, myoclonic jerks (often induced by light, sound or sudden movements in the visual field), panic attacks, dementia, aggression as well as fecal and urinary incontinence as a result of loss of house training. The average onset of first symptoms is reported at 7 years while the frequency and the severity of the seizures increase. At the moment, the genetic test for Lafora disease could only be carried out on a blood sample (no buccal swabs).
Breeds
Basset Hound, Beagle, Cardigan Welsh Corgi, Chihuahua, Dachshund (Dackel), French Bulldog, Long-Haired Dachshund, Newfoundland, Pembroke Welsh Corgi, Short-Haired Dachshund, Welsh Corgi (Cardigan/Pembroke), Wire-Haired Dachshund
Order details
| Test number | 8005 |
| Sample material | 0.5 ml EDTA blood, 1x special swab (eNAT) |
| Test duration | 14-21 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 7 years |
| Causality | causally |
| Gene | NHLCR1 |
| Mutation | COMPLEX |
| Literature | OMIA:000690-9615 |
Detailed description
Lafora disease is an autosomal recessive inherited glygogen metabolism disorder that causes progressive myoclonic epilepsy. A mutation in the NHLRC1 gene (also called EPM2B) leads to an transformation of soluble glycogen to an insoluble polyglucosan that aggregates in neurotoxic inclusions, called Lafora bodies. The Lafora bodies (LBs) accumulate in the neuronal somatodendritic compartements of the brain but could also be found in other organs such as muscle, heart, skin and liver. The symptoms of this disease are: poor vision/blindness, generalized tonic clonic seizures, myoclonic jerks (often induced by light, sound or sudden movements in the visual field), panic attacks, dementia, aggression as well as fecal and urinary incontinence as a result of loss of house training. The average onset of first symptoms is reported at 7 years. Since it is a progressive disease, the frequency and the severity of the seizures increase. At the moment, the genetic test for Lafora disease could be carried out on a blood sample (no buccal swabs) for the breeds Dachshund and Beagle.
