Neuroaxonal Dystrophy (NAD) – Schnauzer and Beagle
Kodas: H428
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 lethal variant of the disease, also known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.
Specifications
| Breeds | |
|---|---|
| Gene | MFN2 |
| Chromosome | 2 |
| Mutation | c.1617_1619delGGA |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | FNAD |
Clinical features
Affected puppies are born with immobilized limb joints and with scoliosis of the spine. They are unable to breathe independently, and are either stillborn or die shortly after birth.
References
Pubmed ID: 20653033
Year published: 2010
Omia ID: 2153
Omia variant ID:
Turnaround information
- 10 working days