Startle Disease · Familial Hyperekplexia · Congenital Myoclonus · SLC6A5-related startle disease · Schreckhaftigkeitssyndrom
This is an inherited neurological disorder affecting the spinal cord and brainstem, caused by a genetic mutation in the SLC6A5 gene. This mutation disrupts the transport of glycine, a chemical messenger that normally helps quiet down nerve signals. Without proper glycine function, the nervous system cannot properly switch off signals, leading to uncontrolled over-excitation of the muscles.
Symptoms typically appear immediately at birth or within the first few weeks of life. Owners will notice extreme, exaggerated startle responses to sudden sounds or touch, which trigger severe muscle stiffness and temporary breathing difficulties.
There is no cure for this severe condition, and affected puppies are typically euthanized humanely shortly after birth to prevent suffering. Expected veterinary costs for initial diagnostic evaluation and compassionate euthanasia range from 150 to 800 EUR.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the Head / nervous system.