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Paroxysmal Exercise-Induced Dyskinesia (PED) – Shetland Sheepdog

Code: H995

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Hypertonic Paroxysmal Dyskinesia, is a neurological disorder that causes stiff limbs, loss of coordination and mild trembling.

General information

Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Hypertonic Paroxysmal Dyskinesia, is a neurological disorder that causes stiff limbs, loss of coordination and mild trembling. This variant of this disorder, caused by a dominant mutation to the gene PCK2, is found in the Shetland Sheepdog.

Specifications

Breeds

Shetland Sheepdog
Gene

PCK2
Chromosome

8
Mutation

c.1658G>A
Organ

Muscles
Specimen

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

Autosomal Dominant

Clinical features

Affected dogs present with episodes of general ataxia (loss of coordination), muscular hypertonia (stiffness) of all four limbs and mild trembling. Episodes vary in length from minutes to hours, but tend to be more intense and of longer duration in the case of hot weather or physical activity. Particularly severe episodes may make the dog unable to walk for the duration.

References

Pubmed ID: 32660061

Year published: 2020

Omia ID:

Omia variant ID:

Turnaround information

  • 15 working days