Leukodystrophy

Clinical signs occurring shortly after birth or starting at an age of under four weeks include excessive whining and crying, an exaggerated abnormal gait, difficulty swallowing, head tilt, circling, seizures, and downward pointing of the eyes.

Affected puppies are initially normal and develop progressive neurological signs shortly after birth or starting at an age of under four weeks.

The clinical course of the disease, genetic testing, and magnetic resonance imaging (MRI) may be used in conjunction to diagnose Leukodystrophy.

There is no cure for Leukodystrophy; all currently available treatments are symptomatic or supportive in nature.

Talk to your vet about your dog’s leukodystrophy result so you can plan appropriate monitoring and supportive care.

Provide a calm environment and use slings or harnesses to assist with mobility and prevent falls.

Soft bedding and nonslip flooring can help your dog rest comfortably and move safely around the home.

Gentle, low-impact activities and consistent routines can help keep your dog engaged and supported as the condition progresses.

This variant was first described in Standard Schnauzers.

Penetrance: The proposed variant for Leukodystrophy is recessive, that is, a dog requires two copies of the variant to show signs of the disease from the variant.

Gene

TSEN54 Exon 5

Inheritance type

recessive

Clinical category

Neurologic

Citations

1. Stork et al 2019

• Standard Schnauzer