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Juvenile Paroxysmal Dyskinesia (PD) is a severe genetic muscle and nerve disorder in the Markiesje, causing muscle cramps and extremely weak limbs in affected puppies.

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Specifiche

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informazioni generali

Juvenile Paroxysmal Dyskinesia (PD) is a severe genetic muscle and nerve disorder in the Markiesje, causing muscle cramps and extremely weak limbs in affected puppies. There is no effective treatment, and euthanasia is usually elected within three months of age. The disorder is caused by a recessive mutation to the SOD1 gene.

Caratteristiche cliniche

Affected puppies present with severe tetraparesis (weakening of all four limbs), cramping and dystonia (involuntary and often repetitive muscle contractions). The condition deteriorates over a matter of weeks, and euthanasia on humane grounds is typically necessary.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 33677640

Omia ID: 2322

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