Leukodystrophy, TSEN54-related(LEP)
Also known as: TSEN54 leukodystrophy · TSEN54-related leukodystrophy · Hereditary Leukodystrophy Schnauzer type · Leukodystrophie TSEN54-Gen · Leukoencephalopathy · …
Overview
What it is
This is an inherited neurological disorder affecting the brain and spinal cord, caused by a genetic mutation. It disrupts the development and maintenance of the myelin sheath, which is the protective fatty coating that insulates nerve fibers. Without this insulation, the nervous system cannot properly transmit signals to the rest of the body.
How it presents
Symptoms typically appear in early puppyhood and include progressive movement difficulties, tremors, and muscle weakness. As the disease rapidly worsens, affected puppies lose their coordination and eventually their ability to walk.
Treatment
There is no cure for this fatal condition, and care is focused on keeping the puppy comfortable. Diagnostic testing and palliative care typically cost between 500 and 2000 EUR.
How it's tested
TSEN54-Leukodystrophie DNA-Test(TSEN54-LD)
Primary testDNA testEin molekularbiologischer Gentest zum Nachweis der ursächlichen Mutation im TSEN54-Gen, um betroffene Hunde, Träger und mutationsfreie Tiere zu identifizieren.
Issuing body: other
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Leukodystrophy, TSEN54-related?
This is an inherited neurological disorder affecting the brain and spinal cord, caused by a genetic mutation. It disrupts the development and maintenance of the myelin sheath, which is the protective fatty coating that insulates nerve fibers. Without this insulation, the nervous system cannot properly transmit signals to the rest of the body.
How is Leukodystrophy, TSEN54-related tested?
Tests currently in our database: TSEN54-Leukodystrophie DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.