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H634

Paroxysmal Dyskinesia (PxD) is a neurological condition that results in episodes of convulsions.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Mode of Inheritance

Chromosome

Year Published

Generell informasjon

Paroxysmal Dyskinesia (PxD) is a neurological condition that results in episodes of convulsions. The form of the disorder analysed in this test, found in the Soft-Coated Wheaten Terrier, is caused by a recessive mutation to the gene PIGN.

Kliniske egenskaper

Onset of PxD convulsive episodes in the SCWT occurs at about 2 years of age. The convulsions mainly affect the hind limbs, which rapidly flex and extend. Episodes can vary between minutes and hours in length, and can occur anywhere between multiple times a day, and once every few days. They may be triggered by stress, excitement or noise, but exact triggers are unclear. In some cases, symptoms can increase in severity until euthanasia on humane grounds is desirable.

Tilleggsinformasjon

Referanser

Pubmed ID: 27891564

Omia ID: 2084

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