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Spinocerebellar Ataxia

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Test Overview:

Spinocerebellar Ataxia affects dogs and is an early onset, inherited neurologic disease. Dogs with this disease present with incoordination and loss of balance between 2 to 6 months of age. The disease is progressive with dogs developing a “prancing” gait and often falling. With this form of ataxia dogs may also have episodes of muscle twitching and rigidity that can appear like seizures but dogs are aware of their surroundings during these attacks. The episodes of muscle twitching can get worse with age and dogs are at risk of overheating, and dogs can also experience true epileptic seizures. Dogs with Spinocerebellar Ataxia are usually euthanised by 2 years of age due to their poor quality of life.

Category:

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

Gene:

KCNJ10

Variant Detected:

chr38:22140300: C>G

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 KCNJ10 gene will reliably determine if a dog is a genetic carrier of Spinocerebellar Ataxia.

Research Citation(s):

Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD. A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both. J Vet Intern Med. 2014 [PubMed: 24708069] Rohdin C, Gilliam D, O'Leary CA, O'Brien DP, Coates JR, Johnson GS, Jaderlund KH. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in smooth-haired fox terriers with hereditary ataxia and in related breeds. Acta Vet Scand. 2015 May 23;57:26. [PubMed: 25998802] SCA testing in Parson Russell Terriers http://www.offa.org/stats_dna.html?dnatest=SCA

Associated Breed(s):

Basenji, Chihuahua, Jack Russell Terrier, Mixed Breed, Parson Russell Terrier, Smooth Fox Terrier, Tenterfield Terrier , Wire Fox Terrier,

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