Startle Disease (Hyperekplexia)
Startle disease is a disorder of glycine receptors characterized by episodes of hypertonia and apnea triggered by stimuli such as noise and/or touch.
Age of Onset: <2 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical signs are sporadic, in these dogs sudden contraction of extensor muscles is triggered by some external stimulus.
Clinical signs are sporadic, in these dogs sudden contraction of extensor muscles is triggered by some external stimulus.
Clinical Signs:
Movement
Extensor rigidity
Tremor
Special Functions (e.g. respiration; urination)
Apnea
Movement
Extensor rigidity
Tremor
Special Functions (e.g. respiration; urination)
Apnea
Diffuse neuromuscular
Autosomal recessive inheritance- SLC6A5 frameshift mutation
For breed-specific genetic testing, click the link(s) below:
https://www.genomia.cz/en/test/startle-disease-hyperekpl/
https://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8191
For breed-specific genetic testing, click the link(s) below:
https://www.genomia.cz/en/test/startle-disease-hyperekpl/
https://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8191
To read more about this disease click below:
