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Startle Disease (Hyperekplexia)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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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: First weeks of life
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:
​Behavioral/Mental Awareness
Sensitivity to stimulus
​​
Posture and Appearance
Cyanosis

​Movement
Episodic generalized hypertonia
Tremor


Special Functions (e.g. respiration; urination)
Apnea
Diffuse CNS
Autosomal recessive inheritance of SLC6A5 gene mutation

​For breed-specific information, follow the links below:
https://labogen.com/en/erbkrankheiten-hund/startle-disease/
https://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8191
To read more about this disease click below:
References
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