{"id":248191,"date":"2024-09-12T07:23:56","date_gmt":"2024-09-12T05:23:56","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/startle-disease"},"modified":"2024-09-12T07:23:56","modified_gmt":"2024-09-12T05:23:56","slug":"startle-disease","status":"publish","type":"page","link":"https:\/\/labogen.com\/en\/genetic-diseases-dog\/startle-disease\/","title":{"rendered":"Startle disease"},"content":{"rendered":"

Startle disease<\/h1>

General description<\/strong><\/h4>

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

Breeds<\/span><\/strong><\/h4>

Australian Shepherd, Irish Wolfhound, Miniature American Shepherd, Old English Sheepdog, Spanish Greyhound<\/p>

Detailed description<\/summary>

Startle Disease or Hyperekplexia is an inherited neurodegenerative disease<\/strong> 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.<\/p>

Affected puppies show first symptoms at a very young age<\/strong>, for example already 5-7 days after birth in Irish Wolfhounds. Clinical symptoms are exaggerated extensor rigidity and tremor <\/strong>evoked by handling or in response to either acoustic or tactile stimuli<\/strong>. The puppies are unable to stand or walk<\/strong> and show rigid extended posture in all four limbs<\/strong>. Symptoms lessen when dogs are relaxed or sleeping and increase when the dogs are moving. Additionally, cyanosis<\/strong> can appear while suckling.<\/p>

Affected puppies have to be euthanised due to impaired life quality.<\/p> <\/p><\/details><\/div><\/div>

<\/div><\/div>

Startle Disease - Australian Shepherd<\/h4>

The symptoms described in this breed can be found in the text above.<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8191<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neurological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>5-7 days<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>GLRA1<\/td><\/tr>
Mutation<\/strong><\/td>DEL<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000689-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Startle Disease - Irish Wolfhound<\/h4>

The symptoms described in this breed can be found in the text above.<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8191<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neurological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>5-7 days<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>SLC6A5<\/td><\/tr>
Mutation<\/strong><\/td>COMPLEX<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001594-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Startle Disease - Spanish Greyhound<\/h4>

The symptoms described in this breed can be found in the text above.<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8191<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neurological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>5-7 days<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>SLC6A5<\/td><\/tr>
Mutation<\/strong><\/td>DEL<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001594-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Startle Disease - Old English Sheepdog<\/h4>

The symptoms described in this breed can be found in the text above.<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8191<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neurological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Gene<\/strong><\/td>SLC6A5<\/td><\/tr>
Mutation<\/strong><\/td>DELINS<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001594-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
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