KCNJ10-related cerebellar ataxia(SAMS)
Also known as: Spinocerebellar Ataxia with Myokymia and/or Seizures · KCNJ10-related Spinocerebellar Ataxia · Myokymie und Ataxie Syndrom · KCNJ10 Ataxie · Spongiform Degeneration with Cerebellar Ataxia 1 · …
Overview
What it is
This is an inherited neurological disorder affecting the cerebellum, which is the part of the brain that coordinates movement and balance. A genetic mutation disrupts the potassium channels in the nervous system, preventing nerve cells from communicating properly. This disruption leads to a progressive loss of physical coordination.
How it presents
Owners typically notice symptoms starting at a few months of age, including uncoordinated movement, involuntary muscle twitching, and epileptic seizures. These balance and neurological issues tend to worsen over time.
Treatment
There is no cure for this progressive condition, and treatment is limited to lifelong management of symptoms like seizures, with costs ranging from 500 to 3000 EUR. Because of the severe impact on quality of life, euthanasia is often considered early on.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
KCNJ10-SAMS DNA-Test(SAMS)
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der ursächlichen Mutation im KCNJ10-Gen, die für die spinozerebelläre Ataxie mit Myokymie und/oder Krampfanfällen (SAMS) verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Episodische Ataxie (EA) DNA-Test(EA)
Primary testDNA testDer DNA-Test identifiziert die ursächliche genetische Mutation für die episodische Ataxie, was eine frühzeitige Diagnose und die Identifikation von Trägern ermöglicht.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
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 KCNJ10-related cerebellar ataxia?
This is an inherited neurological disorder affecting the cerebellum, which is the part of the brain that coordinates movement and balance. A genetic mutation disrupts the potassium channels in the nervous system, preventing nerve cells from communicating properly. This disruption leads to a progressive loss of physical coordination.
How is KCNJ10-related cerebellar ataxia tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), KCNJ10-SAMS DNA-Test, Episodische Ataxie (EA) DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.