Neuroaxonal Dystrophy (NAD) – Miniature American Shepherd
Kodas: H289
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. In the Toy Australian Shepherd and Miniature American Shepherd, a variant of the disorder has been observed which is probably caused by a recessive mutation to the gene RNF170.
Specifications
| Breeds | |
|---|---|
| Gene | RNF170 |
| Chromosome | 16 |
| Mutation | c.367delG |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NAD |
Clinical features
Affected dogs display slowly progressive neurological signs which can include ataxia (loss of coordination), weakness of the hind limbs, dragging of the toes while walking, seizures, and fearful behaviour.
References
Pubmed ID: 39177409
Year published: 2024
Omia ID: 2876
Omia variant ID:
Turnaround information
- 10 working days