GM2-Gangliosidosis (GM2)

LABOKLIN Service ID: 8208

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.

Method	sequencing
Breed list	Japanese Chin, Miniature Poodle, Shiba, Toy Poodle
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab