Disease overview

Ataxia means "without coordination". Degeneration of the cerebellar structures causes ataxia, which is a neurological sign of defective motor coordination that can affect gait, balance, speech, and gaze. The cerebellum is the part of the brain responsible for controlling coordination and balance as it supports planning, timing, and force of movements and fine tunes complex movements.

Gene name

SLC12A6

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by spinocerebellar ataxia often have uncoordinated gaits, intention tremors, muscle contractions, and lack of balance. Around 3-6 months of age, this disease typically presents with slowly progressive pelvic limb incoordination. As it progresses, affected dogs have an increased chance of falling and difficulty returning to standing. This form of ataxia is severe and leads to inability to walk by 2-3 years 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

Malinois

Citations

Van Poucke M, Stee K, Sonck L, Stock E, Bosseler L, Van Dorpe J, Van Nieuwerburgh F, Deforce D, Peelman LJ, Van Ham L, Bhatti SFM, Broeckx BJG. Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet. 2019 Oct;27(10):1561-1568. doi: 10.1038/s41431-019-0432-3. Epub 2019 Jun 3. PMID: 31160700; PMCID: PMC6777613.

Disclaimer

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