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H452

Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 11032334

Omia ID: 402

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