Hyperekplexia, GLRA1-related(SD)
Also known as: Startle Disease · Hereditary Hyperekplexia · Congenital Myoclonus · GLRA1-associated startle disease · Schreckkrankheit
Overview
What it is
Hyperekplexia, also known as startle disease, is a severe hereditary neurological disorder affecting the nervous system. It is caused by a genetic mutation in the GLRA1 gene, which disrupts glycine receptors that normally help calm nerve activity. Without these functioning receptors, the dog's nervous system becomes unsafely overexcited by sensory inputs. This specific genetic variant is found in Miniature Australian Shepherds and Miniature American Shepherds.
How it presents
Symptoms appear shortly after birth, typically when puppies are first handled or exposed to sudden noises. Owners will notice extreme, rigid muscle stiffness and severe breathing difficulties triggered by these sudden sounds or touch.
Treatment
There is no cure for this condition, and treatment is generally limited to supportive care or early euthanasia to prevent suffering. Supportive care and diagnostic confirmation typically cost between 500 and 3000 EUR.
How it's tested
Hyperekplexia (Startle Disease) DNA-Test(SD)
Primary testDNA testEin molekularbiologischer DNA-Test identifiziert die Mutation im GLRA1-Gen, die für die Hyperekplexia (Startle Disease) verantwortlich ist, und ermöglicht den Nachweis von Trägern und betroffenen Hunden.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Hyperekplexia, GLRA1-related?
Hyperekplexia, also known as startle disease, is a severe hereditary neurological disorder affecting the nervous system. It is caused by a genetic mutation in the GLRA1 gene, which disrupts glycine receptors that normally help calm nerve activity. Without these functioning receptors, the dog's nervous system becomes unsafely overexcited by sensory inputs. This specific genetic variant is found in Miniature Australian Shepherds and Miniature American Shepherds.
How is Hyperekplexia, GLRA1-related tested?
Tests currently in our database: Hyperekplexia (Startle Disease) DNA-Test.
Which breeds are most affected?
Most commonly affected: Spanish Galgo.