Neuroaxonal Dystrophy (NAD) – Papillon
Kodas: H890
Short description
Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system.
General information
Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system. In the condition, there is swelling of cells in the brain which affect the communication with nerve cells. NAD can be present at birth or develop later in a dog’s life, leading to neurological dysfunction and loss of coordination.
There are multiple variants of mutations known in different breeds. This variant of the disorder occurs in the Papillon, and is caused by a recessive mutation to the gene PLA2G6.
Specifications
| Breeds | |
|---|---|
| Gene | PLA2G6 |
| Chromosome | 10 |
| Mutation | c.1579G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NAD |
Clinical features
Neuroaxonal Dystrophy leads to an uncoordinated gait, dragging of the paws or not knowing where their limbs are relative to the ground. Other symptoms can include blindness and strabismus (wandering eye). Onset of signs is typically between 6 and 18 months of age and follows a progressive course of cognitive and motor regression and hypotonia. Due to poor quality of life, affected dogs are typically euthanized on humane grounds.
References
Pubmed ID: 28107443
Year published: 2017
Omia ID: 2105
Omia variant ID:
Turnaround information
- 10 working days