Disease overview

Leukodystrophy is an inherited nervous system disease that results in abnormal processing and storage of an enzyme that is critical in the production of myelin. When the myelin is defective, the nerve cells are damaged and destroyed, and they fire randomly. This results in tremors, staggering, weakness, and lack of coordination.

Gene name

CYTB

Inheritance

Mitochondrial

Signs and symptoms

Affected dogs will present with a wide variety of symptoms at an early age of around 3-4 weeks. They may have tremors, weak muscles, loss of hind limb control, and growth abnormalities. They may develop vision problems, behavior changes, dementia, lack of appetite, starvation from inability to eat properly, as well as urinary and fecal incontinence.

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

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Citations

Li FY, Cuddon PA, Song J, Wood SL, Patterson JS, Shelton GD, Duncan ID. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis. 2006 Jan;21(1):35-42. doi: 10.1016/j.nbd.2005.06.009. Epub 2005 Jul 18. PMID: 16026996.

Disclaimer

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