Disease overview

The cerebellum is the part of the brain responsible for controlling coordination and balance. It helps to fine tune complex movements, aiding in planning, timing, and force of movements. Ataxia, means without coordination, therefore this disease leads to an uncoordinated gait.

Gene name

SCN8A

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by spinocerebellar ataxia often have uncoordinated gaits, intention tremors, and lack of balance. This disease presents at birth, with signs apparent around 3 weeks of age. As the disease progresses, there is an increased chance of an affected dog falling and having difficulty returning to standing. Vision may be impaired. This is a severe disease that typically requires humane euthanasia by 10-12 weeks of age.

How is it diagnosed

Clinical signs may be suggestive of spinocerebellar ataxia, but other causes must be ruled out if a genetic cause is not readily apparent. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Letko A, Dietschi E, Nieburg M, Jagannathan V, Gurtner C, Oevermann A, Drögemüller C. A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes (Basel). 2019 May 10;10(5):362. doi: 10.3390/genes10050362. PMID: 31083464; PMCID: PMC6562999.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.