Gangliosidosis (GM1) – Shiba Inu
Kodas: H702
Short description
Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth.
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), 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.
Specifications
| Breeds | |
|---|---|
| Gene | GLB1 |
| Chromosome | 23 |
| Mutation | c.1649delC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM1 |
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.
References
Pubmed ID: 12555949
Year published: 2002
Omia ID: 402
Omia variant ID:
Turnaround information
- 10 working days