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Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 23 |
| Mutation | c.200G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | GM1 |
Informations générales
Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth. This particular variant of the disorder, GM1 Gangliosidosis, is caused by a is caused by a recessive mutation to the gene GLB1, and is found in the Portuguese Water Dog. Related variants of GM1 Gangliosidosis are also found in the Shiba Inu and Alaskan Husky.
Caractéristiques cliniques
Affected dogs present within the first 6 months of life with neurological symptoms such as hypermetria (overextension of limbs while stepping), nystagmus (trembling/wobbling eyes), intention tremors of the head and exaggerated limb reflexes. The disease is progressive, and euthanasia is likely to be necessary due to poor quality of life.
Additional Information
Références
Pubmed ID: 11032334
Year published: 2000
Omia ID: 402
Omia variant ID: 41