Lafora disease
Kodas: H468
Short description
Lafora's disease is a hereditary, late onset, progressive myoclonic epilepsy.
General information
Lafora’s disease is a hereditary, late onset, progressive myoclonic epilepsy. One of the features of the disease is a myoclonus, a sudden contraction of a group of muscles characterized by jerking the head backwards, which can be induced by flashing lights, sudden sounds and movement especially close to the dog’s head. Lafora’s disease can occur spontaneously in any dog breed however some dog breeds are predisposed.
Specifications
| Breeds | Brussels Griffon, Poodle (Miniature), Poodle (Standard), Basset Hound, Beagle, Chihuahua, Dachshund, French Bulldog, Newfoundland, Pembroke Welsh Corgi |
|---|---|
| Gene | NHLRC1 |
| Chromosome | 35 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | Lafora disease |
Clinical features
The first signs of Lafora's disease occur in affected dogs over 5 years of age, with myoclonic seizures (characterized by jerking of the head). The disease progresses rapidly, and can result in further neurological symptoms like ataxia, blindness and dementia.
References
Pubmed ID: 15637270
Year published: 2005
Omia ID: 690
Omia variant ID:
Turnaround information
- 15 working days