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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.618_620delCCT |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM2, variant 0; Sandhoff |
General information
Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth. This form of the disorder analysed in this test, known as gangliosidosis (GM2, Sandhoff Disease), is caused by a recessive mutation to the gene HEXB. This variant is found in the Shiba Inu. A related variant has also been observed in the Toy Poodle. The disorder is progressive and severe.
Clinical features
Affected dogs begin presenting signs of neurological degeneration around the age of 12 months. Signs can include tremors, a lowered tail, decreased appetite, less responsiveness to verbal commands, and ataxia (loss of coordination), which can lead to an inability to jump or walk properly. The disease is progressive and likely to be fatal, and euthanasia on humane grounds may be necessary.
Additional information
References
Pubmed ID: 28833537
Year published: 2017
Omia ID: 1462
Omia variant ID: