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H870

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.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 31584937

Omia ID: 2215

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