Globoid Cell Leukodystrophy
Globoid cell leukodystrophy (Krabbe disease) is a rare, severe inherited neurodegenerative disorder affecting myelin in the nervous system.
Detailed Description
This condition is caused by a deficiency of the enzyme galactocerebrosidase, leading to accumulation of toxic substances and destruction of myelin in the central and peripheral nervous systems. Affected puppies develop progressive neurological signs and typically die before one year of age. It is inherited in an autosomal recessive pattern and is most commonly seen in certain terrier breeds.
Common Symptoms
- Ataxia
- Weakness
- Tremors
- Blindness
- Behavioral changes
Management Options
- Supportive care
Frequently Asked Questions
Can Krabbe Disease be cured?
No, it is fatal and untreatable.
Is there a test for carriers?
Yes, DNA testing is available.
How common is it in Cairn Terriers?
Rare, but the breed is at increased risk.
Should carriers be bred?
No, carriers should not be bred to prevent affected puppies.
Condition Details
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Typical Age of Onset
2–6 months
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Testing Available
Yes
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Diagnosing Methods
Genetic testing; Enzyme assay; MRI; Histopathology
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Preventative Measures
Genetic testing of breeding stock
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Related Conditions
Other leukodystrophies, Cerebellar abiotrophy