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

TSEN54

Inheritance

Autosomal recessive

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, growth abnormalities, seizures, and head tilt. They may develop vision problems, behavior changes, dementia, lack of appetite, starvation from inability to eat properly, as well as urinary and fecal incontinence. Some affected dogs present with apathy and abnormal vocalizations.

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

Störk T, Nessler J, Anderegg L, Hünerfauth E, Schmutz I, Jagannathan V, Kyöstilä K, Lohi H, Baumgärtner W, Tipold A, Leeb T. TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS Genet. 2019 Oct 4;15(10):e1008411. doi: 10.1371/journal.pgen.1008411. PMID: 31584937; PMCID: PMC6795476.

Disclaimer

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