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H702

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

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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 recessive mutation to the gene GLB1, and occurs in the Shiba Inu. Related variants of GM1 Gangliosidosis are also found in the Portuguese Water Dog and Alaskan Husky.

Clinical features

Affected dogs generally are characterised by progressive cerebral dysfunction and impaired growth from an early age. Signs include weight loss, ataxia, wide-based gait, decreased proprioception, intention tremor of the head, hypermetria, dysmetria, internal strabismus, and positional nystagmus. Signs begin around 6 to 8 weeks of age, and are clearly noticeable by 7 months of age.

Additional information

References

Pubmed ID: 12555949

Omia ID: 402

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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