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Leukodystrophy is a class of neurological disorders in which the white matter of the brain degenerates, which can cause progressive signs such as a loss of coordination, tremors, limb weakness and potentially death.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
Leukodystrophy is a class of neurological disorders in which the white matter of the brain degenerates, which can cause progressive signs such as a loss of coordination, tremors, limb weakness and potentially death. This variant of the disease, found in the Standard Schnauzer, is caused by a recessive mutation to the gene TSEN54.
Kliniske egenskaper
Affected dogs present within the first 4 weeks after birth with symptoms such as apathy, hypermetria (overextending of the limbs while stepping), strabismus (wandering eye), altered voice, intension tremor, head tilt and circling behaviour. The disease is progressive, and euthanasia is likely to be necessary due to poor quality of life.
Tilleggsinformasjon
Referanser
Pubmed ID: 31584937
Omia ID: 2215