Pontocerebellar hypoplasia, AMPD2-related(PCH)
Also known as: Pontocerebelläre Hypoplasie · AMPD2-related pontocerebellar hypoplasia · AMPD2-assoziierte pontocerebelläre Hypoplasie · Cerebellar hypoplasia AMPD2-related · Cirneco oculo-neurological syndrome
Overview
What it is
This is a severe, inherited brain disorder where the cerebellum, which is the part of the brain responsible for coordinating movement, and the brainstem fail to develop properly. It is caused by a genetic mutation that leads to structural underdevelopment in these critical areas of the central nervous system. This condition is also known as Cirneco oculo-neurological syndrome.
How it presents
Symptoms typically appear within the first few weeks of life. Owners will notice severe coordination issues, tremors, balance problems, and general developmental delays in affected puppies.
Treatment
There is no cure for this condition, and veterinary care is focused on diagnostics and supportive care, typically costing between 300 and 1500 EUR. Because of the rapid decline and severe impact on quality of life, affected dogs are usually euthanized at a very young age.
How it's tested
Pontozerebelläre Hypoplasie (PCH) DNA-Test(PCH)
Primary testDNA testEin DNA-Test identifiziert die ursächliche Mutation im AMPD2-Gen, welche für die autosomal-rezessive pontozerebelläre Hypoplasie verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Pontocerebellar hypoplasia, AMPD2-related?
This is a severe, inherited brain disorder where the cerebellum, which is the part of the brain responsible for coordinating movement, and the brainstem fail to develop properly. It is caused by a genetic mutation that leads to structural underdevelopment in these critical areas of the central nervous system. This condition is also known as Cirneco oculo-neurological syndrome.
How is Pontocerebellar hypoplasia, AMPD2-related tested?
Tests currently in our database: Pontozerebelläre Hypoplasie (PCH) DNA-Test.
Which breeds are most affected?
Most commonly affected: Cirneco dell'Etna.