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GM1 Gangliosidosis

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
GM1 Gangliosidosis
Mutation
c.1647delC
Mutation 2
c.1688_1706ins19bp dup
Mutation 3
c.200G>A
Test Type
Genetic Disease/Disorder
Details
Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM1: proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Details 2
Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM1: proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Published
Yamato, O., Ochiai, K., Masuoka, Y., Hayashida, E., Tajima, M., Omae, S., Iijima, M., Umemura, T., Maede, Y. :GM1 gangliosidosis in shiba dogs Veterinary Record 146:493-496, 2000. Pubmed reference: 10887996.

Breed Specific Info

Researched Breeds
Alaskan Husky, Beagle, English Springer Spaniel, Portugese Water Dog, Shiba Inu
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