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H995

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.

10 working days

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Caractéristiques

Breeds

Gene

Chromosome

8

Mutation

c.1658G>A

Mode of Inheritance

Autosomique dominante

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Informations générales

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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 32660061

Year published: 2020

Omia ID:

Omia variant ID:

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