{"id":248208,"date":"2024-09-12T07:23:56","date_gmt":"2024-09-12T05:23:56","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/gm2-gangliosidosis-gm2"},"modified":"2024-09-12T07:23:56","modified_gmt":"2024-09-12T05:23:56","slug":"gm2-gangliosidosis-gm2","status":"publish","type":"page","link":"https:\/\/labogen.com\/en\/genetic-diseases-dog\/gm2-gangliosidosis-gm2\/","title":{"rendered":"GM2-Gangliosidosis (GM2)"},"content":{"rendered":"

GM2-Gangliosidosis (GM2)<\/h1>

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

GM2 gangliosidosis also called Sandhoff disease, is a fatal, progressive neurodegenerative lysosomal storage disease. A metabolic disorder leads to a progressive destruction of the central nervous system. First symptoms appear at the age of 9 to 12 months and typically include loss of vision, walking difficulties, loss of balance, head tremors and vomiting and get more severe over time.<\/p>

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

Japanese Chin, Miniature Poodle, Shiba, Toy Poodle<\/p>

Detailed description<\/summary>

GM2 gangliosidosis is a fatal, progressive neurodegenerative lysosomal storage disease<\/strong> caused by variants in the HEXB<\/em> gene. Affected dogs are unable to break down certain enzymes, which are essential to degrade the neuronal membrane-component ganglioside GM2 in visceral tissue. Accumulation of these metabolites leads to a progressive destruction of the central nervous system<\/strong>.<\/p>

First symptoms of this neurologic disease appear at the age of 9 to 12 months<\/strong> and typically include loss of vision, walking difficulties, loss of balance, head tremors and vomiting<\/strong>. The disease progresses rapidly and dogs usually die between the age of 18 and 23 months.<\/p><\/p><\/details><\/div><\/div>

<\/div><\/div>

GM2-Gangliosidosis - Japanese Chin<\/h4>

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

Order details<\/summary>
Test number<\/strong><\/span><\/td>8208<\/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>9-12 months <\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>HEXA<\/td><\/tr>
Mutation<\/strong><\/td>C-T<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001461-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

GM2-Gangliosidosis - Miniature Poodle<\/h4>

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

Order details<\/summary>
Test number<\/strong><\/span><\/td>8208<\/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>9-12 months <\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>HEXB<\/td><\/tr>
Mutation<\/strong><\/td>DEL<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001462-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

GM2-Gangliosidosis (GM2)<\/h4>

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

Order details<\/summary>
Test number<\/strong><\/span><\/td>8208<\/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>9-12 months <\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>HEXB<\/td><\/tr>
Mutation<\/strong><\/td>G-T<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001462-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
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