GM2 Gangliosidosis, type II (Sandhoff disease or variant 0)(GM2)
Also known as: Sandhoff disease · GM2 gangliosidosis type II · Sandhoff-Krankheit · GM2-Gangliosidose Typ II · Hexosaminidase A and B deficiency
Overview
What it is
This is an inherited lysosomal storage disease affecting the nervous system, caused by a lack of vital enzymes. Without these enzymes, fatty substances called gangliosides build up to toxic levels inside the cells. This accumulation progressively damages the dog's brain and nerve cells.
How it presents
Symptoms typically begin between 3 and 6 months of age, starting with tremors, coordination issues, and muscle weakness. These signs rapidly progress to blindness and an inability to move.
Treatment
There is no cure for this fatal condition, and treatment is limited to supportive care to maintain comfort. Managing palliative care and eventual humane euthanasia typically costs between 500 and 2000 EUR.
How it's tested
GM2-Gangliosidose (Typ I) DNA-Test(GM2)
Primary testDNA testEin DNA-Test, der die spezifische Mutation im HEXA-Gen nachweist, welche zum Mangel des Enzyms Beta-Hexosaminidase A führt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is GM2 Gangliosidosis, type II (Sandhoff disease or variant 0)?
This is an inherited lysosomal storage disease affecting the nervous system, caused by a lack of vital enzymes. Without these enzymes, fatty substances called gangliosides build up to toxic levels inside the cells. This accumulation progressively damages the dog's brain and nerve cells.
How is GM2 Gangliosidosis, type II (Sandhoff disease or variant 0) tested?
Tests currently in our database: GM2-Gangliosidose (Typ I) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.