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Krabbe Disease, also known as Globoid Cell Leukodystrophy or GALC Deficiency, is a severe metabolic disorder that causes neuromuscular issues such as weakness and paralysis.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.473A>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Krabbe Disease, also known as Globoid Cell Leukodystrophy or GALC Deficiency, is a severe metabolic disorder that causes neuromuscular issues such as weakness and paralysis. It is caused by a recessive mutation to the gene GALC. The variant analysed in this test occurs in the Cairn Terrier and West Highland White Terrier. A closely related variant has been observed in the Irish Setter.
Caractéristiques cliniques
Affected puppies present at approximately 4 to 6 weeks of age with tremors, limb weakness, ataxia (loss of coordination), muscle atrophy and paralysis. The disease is progressive, and by the age of 9 months, the symptoms are likely to be severe enough to warrant euthanasia on humane grounds.
Additional Information
Références
Pubmed ID: 8661004
Year published: 1996
Omia ID: 578
Omia variant ID: 51