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Spinocerebellar Ataxia (Alpine Dachsbracke Type)

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Test Overview:

Spinocerebellar Ataxia (Alpine Dachsbrake Type) affects dogs and is an inherited neurologic disease. Symptoms present shortly after birth when normal littermates develop coordinated movement. Dogs affected by this disease do not develop the balance necessary to stand or walk normally. Affected dogs may have head tremors, abnormal body movements, and often fall over. Due to the severity of disease, affected puppies are usually euthanised by 10-12 weeks of age.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SCN8A

Variant Detected:

chr27:43476519: G/T

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SCN8A gene will reliably determine if a dog is a genetic carrier of Spinocerebellar Ataxia (Alpine Dachsbrake Type).

Research Citation(s):

Letko A, Dietschi E, Nieburg M, Jagannathan V, Gurtner C, Oevermann A, Drogemuller C. A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes (Basel). 2019 May 10;10(5):362. [PubMed: 31083464]

Associated Breed(s):

Mixed Breed,
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