Disease overview

Juvenile-onset neuroaxonal dystrophy is a degenerative neurological disease that causes delays in information transfer between the brain and the body. This severe form results from a mutation in the TECPR2 gene, which affects how information gets relayed across distances on the nerves.

Gene name

TECPR2

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will present with symptoms around 6 months to 1 year of age. These may include uncoordinated movement (ataxia), tremors, weak muscles, loss of limb control, and/or involuntary eye movement (nystagmus). They may have behavior changes, changes in vocalization, vision loss, and/or incontinence.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests and imaging may be required for definitive diagnosis. 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

Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH. TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One. 2015 Nov 10;10(11):e0141824. doi: 10.1371/journal.pone.0141824. PMID: 26555167; PMCID: PMC4640708.

Disclaimer

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