57,48 47,50 IVA esclusa

H702

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 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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 12555949

Omia ID: 402

Come funziona?

1. Seleziona il tuo/tuoi prodotto/i

Seleziona un singolo test, un pacchetto CombiBreed o crea il tuo pacchetto personalizzato

2. Raccogli il campione di DNA

Campiona il DNA come indicato nei nostri prodotti e invialo al nostro laboratorio

3. Risultati

Ci occupiamo del tuo DNA con cura e ti forniamo i risultati del test

Prodotti correlati