Startle disease

General description

Startle Disease or Hyperekplexia is an inherited neurodegenerative disease. First symptoms like tremor and unability to stand appear 5-7 days after birth.

Breeds

Australian Shepherd, Irish Wolfhound, Miniature American Shepherd, Old English Sheepdog, Spanish Greyhound

Detailed description

Startle Disease or Hyperekplexia is an inherited neurodegenerative disease that is connected to an impaired transport of the neurotransmitter glycine. Individual mutations in the SLC6A5 gene were found in the breeds Irish Wolfhound, Old English Sheepdog and Spanish Greyhounds, while a variant in the GLRA1 gene was found in Australian Shepherds and Miniature American Shepherds causing Startle disease. Affected puppies show first symptoms at a very young age, for example already 5-7 days after birth in Irish Wolfhounds. Clinical symptoms are exaggerated extensor rigidity and tremor evoked by handling or in response to either acoustic or tactile stimuli. The puppies are unable to stand or walk and show rigid extended posture in all four limbs. Symptoms lessen when dogs are relaxed or sleeping and increase when the dogs are moving. Additionally, cyanosis can appear while suckling. Affected puppies have to be euthanised.

Startle Disease - Australian Shepherd

The symptoms described in this breed can be found in the text above.

Order details
Test number8191
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onset5-7 days
Causalitycausally
GeneGLRA1
MutationDEL
LiteratureOMIA:000689-9615

Startle Disease - Irish Wolfhound

The symptoms described in this breed can be found in the text above.

Order details
Test number8191
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onset5-7 days
Causalitycausally
GeneSLC6A5
MutationCOMPLEX
LiteratureOMIA:001594-9615

Startle Disease - Spanish Greyhound

The symptoms described in this breed can be found in the text above.

Order details
Test number8191
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onset5-7 days
Causalitycausally
GeneSLC6A5
MutationDEL
LiteratureOMIA:001594-9615

Startle Disease - Old English Sheepdog

The symptoms described in this breed can be found in the text above.

Order details
Test number8191
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneurological
Inheritanceautosomal recessive