Disease overview

Spinal dysraphism is an inherited neurological developmental disease that affects the spinal cord. This is an early-onset, non-progressive disease that is considered severe.

Gene name

NKX2-8

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs present with clinical signs when young, around 4 to 6 weeks of age. These include an abnormal gait and crouching with a wide-based stance. Other signs include abnormal hair growth along the back as well as deformities of the spine, tail, and sternum.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

Citations

Safra N, Bassuk AG, Ferguson PJ, Aguilar M, Coulson RL, Thomas N, Hitchens PL, Dickinson PJ, Vernau KM, Wolf ZT, Bannasch DL. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. PLoS Genet. 2013;9(7):e1003646. doi: 10.1371/journal.pgen.1003646. Epub 2013 Jul 18. PMID: 23874236; PMCID: PMC3715436.

Disclaimer

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