Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related(JBD)
Also known as: PITRM1-related neurodegeneration · PITRM1 encephalopathy · Mitochondrial dysfunction and neurodegeneration · PITRM1 deficiency in dogs · Epilepsy with mitochondrial dysfunction and neurodegeneration · …
Overview
What it is
This is a severe, inherited brain disorder, also known as Juvenile Brain Disease or Juvenile Encephalopathy, caused by a genetic defect in the PITRM1 gene. This defect impairs the mitochondria, which are the energy-producing structures within cells, leading to a critical energy shortage. Without sufficient energy, nerve cells in the brain progressively degenerate and die, causing widespread neurological decline.
How it presents
Symptoms typically appear during puppyhood or adolescence and include epileptic seizures, uncoordinated movement, and noticeable behavioral changes. These signs worsen continuously as the disease progresses.
Treatment
There is no cure for this progressive condition, and treatment is limited to lifelong supportive care and seizure management. Managing these symptoms typically costs between 1,000 and 4,000 EUR, though dogs often require early euthanasia due to the severity of the disease.
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
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 Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related?
This is a severe, inherited brain disorder, also known as Juvenile Brain Disease or Juvenile Encephalopathy, caused by a genetic defect in the PITRM1 gene. This defect impairs the mitochondria, which are the energy-producing structures within cells, leading to a critical energy shortage. Without sufficient energy, nerve cells in the brain progressively degenerate and die, causing widespread neurological decline.
How is Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), 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.