GM1 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.
-
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
Embark Breed + Health Test
- Regular Price
$199
- Sale Price
- $125
Embark for Breeders dog DNA test kits
- Sale Price
- $119-$139 per test
-
Diagnosis
Genetic and laboratory testing used to diagnose this disease. Advanced imaging (MRI/CT) may be used to exclude other similar disease processes.
-
Treatment
There is no treatment except supportive care for the clinical signs the affected dog develops.
-
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.
-
Genetic Information
Types of gangliosidosis are defined by the enzyme deficiency that causes the disease. GM1 gangliosidosis is caused by mutations in the GLB1 gene, which codes for the enzyme beta-galactosidase. GLB1 mutations have been identified in affected Shiba Inus, Alaskan Huskies, and Portuguese Water Dogs.
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:
GLB1 (Exon 15) ‐ chr
Inheritance type:
recessive
Citations:
-
Breeds affected
This health condition affects the following breeds
Learn about your dog’s unique genetic health
Dog owners
Breed identification, health and trait insights, personalized care recommendations, and the world’s first canine relative finder—all in one leading dog DNA test.
Learn about the report for dog ownersShop the test
Breeding programs
Embark’s test for breeding programs is one comprehensive DNA test designed with your needs in mind.
Learn about the report for breedersShop the test
