Hyperekplexia (Startle disease), SLC6A5-related(SD)
Also known as: Startle Disease · Familial Hyperekplexia · Congenital Myoclonus · SLC6A5-related startle disease · Schreckhaftigkeitssyndrom
Overview
What it is
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.
How it presents
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.
Treatment
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.
How it's tested
Hyperekplexia (Startle Disease) DNA-Test(SD)
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der ursächlichen Mutation im SLC6A5-Gen, die für die Hyperekplexie (Startle Disease) verantwortlich ist.
Issuing body: other
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 Hyperekplexia (Startle disease), SLC6A5-related?
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.
How is Hyperekplexia (Startle disease), SLC6A5-related tested?
Tests currently in our database: Hyperekplexia (Startle Disease) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.