GM2-Gangliosidosis (GM2)
GM2-Gangliosidosis (GM2)
General description
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 o ver time.
Breeds
Japanese Chin, Miniature Poodle, Shiba, Toy Poodle
Detailed description
GM2 gangliosidosis is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations in the HEXB 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. First symptoms of this neurologic disease appear at the age of 9 to 12 months and typically include loss of vision, walking difficulties, loss of balance, head tremors and vomiting. The disease progresses rapidly and dogs usually die between the age of 18 and 23 months.
GM2-Gangliosidosis - Japanese Chin
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8208 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 9-12 months |
| Causality | causally |
| Gene | HEXA |
| Mutation | C-T |
| Literature | OMIA:001461-9615 |
GM2-Gangliosidosis - Miniature Poodle
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8208 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 9-12 months |
| Causality | causally |
| Gene | HEXB |
| Mutation | DEL |
| Literature | OMIA:001462-9615 |
GM2-Gangliosidosis (GM2)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8208 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 9-12 months |
| Causality | causally |
| Gene | HEXB |
| Mutation | G-T |
| Literature | OMIA:001462-9615 |
