Gangliosidosis Type II (GM2/Tay-Sachs Disease)
Gangliosidosis (GM2) is a deficiency in the enzyme beta-galactosidase which causes defects in the catabolism of gangliosides resulting in their accumulation in neuronal lysosomes.
Age of Onset: Less than 18 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical signs worsen over time
Clinical signs worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Drowsiness
Anxiety
Decreased responsiveness to verbal commands
Posture and Appearance
Wide-based stance in all limbs
Altered tail carriage – tail down
Movement
Stiff gait
Hypermetria
Falling
Ataxia
Tetraparesis
Intention tremor
Inability to climb up or down stairs
Proprioception
Hypermetric Postural Reactions
Cranial Nerves
Decreased bilateral corneal reflex
Decreased/Absent bilateral menace response
Impaired vision
Ventrolateral strabismus
Special Functions (e.g. respiration; urination)
Vomiting
Inappetence
Behavioral/Mental Awareness
Drowsiness
Anxiety
Decreased responsiveness to verbal commands
Posture and Appearance
Wide-based stance in all limbs
Altered tail carriage – tail down
Movement
Stiff gait
Hypermetria
Falling
Ataxia
Tetraparesis
Intention tremor
Inability to climb up or down stairs
Proprioception
Hypermetric Postural Reactions
Cranial Nerves
Decreased bilateral corneal reflex
Decreased/Absent bilateral menace response
Impaired vision
Ventrolateral strabismus
Special Functions (e.g. respiration; urination)
Vomiting
Inappetence
Brain and spinal cord
Associated with a HEXA missense mutation
For breed specific genetic testing, follow the links below:
https://www.genomia.cz/en/test/gm2-japan-chin/
https://www.kokogenetics.com/en/results/pet-health-test/gm2-gangliosidosis-japanese-chin?srsltid=AfmBOorQTK8TPy3tphRB0HO4MzztItPTmItTMP_xHpNB7AvbsfdfICMe
https://www.wisdompanel.com/en-us/dog-health-conditions/gm2-gangliosidosis-chin
For breed specific genetic testing, follow the links below:
https://www.genomia.cz/en/test/gm2-japan-chin/
https://www.kokogenetics.com/en/results/pet-health-test/gm2-gangliosidosis-japanese-chin?srsltid=AfmBOorQTK8TPy3tphRB0HO4MzztItPTmItTMP_xHpNB7AvbsfdfICMe
https://www.wisdompanel.com/en-us/dog-health-conditions/gm2-gangliosidosis-chin
To read more about this disease click below:
