Alexander Disease
Kodas: H389
Short description
Alexander Disease (AxD) is a severe, progressive neural disorder that results in loss of coordination, weak movement and ultimately death.
General information
Alexander Disease (AxD) is a severe, progressive neural disorder that results in loss of coordination, weak movement and ultimately death. AxD in the Labrador Retriever is caused by a dominant mutation to the gene GFAP.
Specifications
| Breeds | |
|---|---|
| Gene | GFAP |
| Chromosome | 9 |
| Mutation | c.719G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
| Also known as | AxD |
Clinical features
Symptoms of AxD generally start in dogs under one year of age. Early signs can include a loss of coordination and balance, a head tilt, "knuckled" paws and an aversion to touch. The disease progresses to weakened limbs, and can also cause muscle atrophy and stiffness, regular jerks of the head and limbs, difficulty eating and an altered voice. AxD is ultimately fatal.
References
Pubmed ID: 26486469
Year published: 2016
Omia ID: 1208
Omia variant ID:
Turnaround information
- 10 working days