Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related(JBD)
PITRM1-related neurodegeneration · PITRM1 encephalopathy · Mitochondrial dysfunction and neurodegeneration · PITRM1 deficiency in dogs · Epilepsy with mitochondrial dysfunction and neurodegeneration · Mitochondriale Dysfunktion und Neurodegeneration · PITRM1 · Mitochondrial encephalopathy Parson Russell Terrier · Juvenile brain disease · Juvenile Encephalopathy · Juvenile encephalopathy in Russell Terriers
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
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.