GM2 Gangliosidosis
A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. This form of lysosomal storage disease (gangliosidosis) is caused by buildup of a fatty substance known as ganglioside, especially in cells of the nervous system.
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Signs and symptoms
Signs include partial or total vision loss, behavior changes, abnormal gait, and seizures.
This is an early onset form of lysosomal storage disease, this can cause affected dogs to display neurologic signs as puppies or young adults.Uncover health risks with Embark
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Diagnosis
Genetic and laboratory testing used to diagnose this disease. Advanced imaging (MRI/CT) may be used to exclude other similar disease processes.
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Treatment
There is no treatment except supportive care for the clinical signs the affected dog develops.
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What to do if your dog is at risk
Actions
- Keeping your affected dog comfortable at home is the best therapy you can provide.
- Slings can be used to assist with their mobility.
- Blind dogs benefit from leaving your furniture in the same place and being put on leashes in unfamiliar territory.
- Please give your dog any medication as prescribed by your veterinarian.
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Genetic Information
Types of gangliosidosis are defined by the enzyme deficiency that causes the disease. GM2 gangliosidosis is caused by mutations in the hexosaminidase genes, which include HEXA and HEXB.
This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
HEXB (Exon 3) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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