Paroxysmal Dyskinesia, PCK2-related(PxD)
Also known as: PCK2-related paroxysmal dyskinesia · Paroxysmale Dyskinesie (PCK2) · PCK2-PxD · PCK2-dyskinesia
Overview
What it is
This is an inherited neurological disorder in Shetland Sheepdogs caused by a mutation in the PCK2 gene, which affects cellular energy metabolism. This genetic defect leads to sudden, temporary episodes of involuntary muscle movements and spasms while the dog remains fully conscious. Because it is an autosomal-dominant condition, a dog only needs to inherit one copy of the mutated gene from a parent to be at risk.
How it presents
Owners will typically notice sudden episodes of muscle stiffness, cramping, or coordination issues starting between a few months and several years of age. These episodes can last from minutes to hours, but the dog behaves completely normally between them.
Treatment
There is no cure, but the condition can be managed long-term through stress reduction, dietary changes, or medication. Lifelong management and diagnostic costs generally range from 600 to 3,500 EUR.
How it's tested
Paroxysmale Dyskinesie (PCK2) DNA-Test(PxD (PCK2))
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der ursächlichen Mutation im PCK2-Gen, die für die paroxysmale Dyskinesie verantwortlich ist.
Issuing body: other
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Paroxysmal Dyskinesia, PCK2-related?
This is an inherited neurological disorder in Shetland Sheepdogs caused by a mutation in the PCK2 gene, which affects cellular energy metabolism. This genetic defect leads to sudden, temporary episodes of involuntary muscle movements and spasms while the dog remains fully conscious. Because it is an autosomal-dominant condition, a dog only needs to inherit one copy of the mutated gene from a parent to be at risk.
How is Paroxysmal Dyskinesia, PCK2-related tested?
Tests currently in our database: Paroxysmale Dyskinesie (PCK2) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.