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Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.1617_1619delGGA |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | FNAD |
Información específica de la prueba
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.
Características clínicas
Los cachorros afectados nacen con las articulaciones de extremidades inmovilizadas y con escoliosis de la columna vertebral. No pueden respirar de forma independiente, y nacen muertos o mueren poco después del nacimiento.
Información adicional
Referencias
Pubmed ID: 20653033
Year published: 2010
Omia ID: 2153
Omia variant ID: 472