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H331

Spongy Degeneration with Cerebellar Ataxia is a severe neurological disorder that causes degeneration of the cerebellum and brain stem.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informations générales

Spongy Degeneration with Cerebellar Ataxia is a severe neurological disorder that causes degeneration of the cerebellum and brain stem. The disease is progressive and ultimately requires euthanasia. This variant of the disease, known as SDCA1, is caused by a recessive mutation to the gene KCNJ10.

The variant of the disease analysed in this test occurs in the Belgian Malinois, and similar variants have been observed in the Jack Russell Terrier and Parson Russel Terrier.

Caractéristiques cliniques

Affected puppies present initial symptoms of SDCA1 between 4 to 9 weeks of age. The primary symptom is ataxia (loss of coordination), with a wide-limbed gait, staggering, trembling and loss of balance. Other symptoms can include lower eyeball coordination after fast head movement, muscle spasms following exercise or stress, and seizures. As symptoms progress, euthanasia on humane grounds is typically elected for by the age of 17 weeks.

Additional Information

Références

Pubmed ID: 27966545,28007838

Omia ID: 2089

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