GM2 Gangliosidosis Variant 0 (Sandhoff Disease)

Toy Poodles

The Disease:

GM2 gangliosidosis is a progressive neurodegenerative Lysosomal Storage disease caused by a recessive mutation. Affected dogs are unable to break down certain enzymes, which are needed to degrade neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues. Accumulation of these metabolites leads to a progressive destruction of the central nervous system.

 

Clinical Signs:

Affected dogs typically exhibit symptoms of neurologic disease around the age of 9 to 12 months. Symptoms include loss of vision, walking difficulties, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progresses rapidly and dogs usually die between the ages of 18 and 23 months.

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