Gangliosidosis Type II (GM2/Sandhoff-Like Disease)
Gangliosidosis Type II (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
Restless
Abrupt change in consciousness when laying down
Posture and Appearance
Wide-based stance in all limbs
Altered tail carriage – tail down
Movement
Stiff gait
Falling
Ataxia
Tetraparesis
Intention tremor
Inability to climb up or down stairs
Involuntary twitching/jerking motions
Circling
Hypermetria
Myoclonus
Cranial Nerves
Decreased bilateral corneal reflex
Decreased/Absent bilateral menace response
Impaired vision
Myoclonic twitching of the face and lips elicited by cranial nerve testing
Spinal Reflexes
Excessively brisk in all four limbs
Reflex testing of the front limbs resulting in myoclonic jerking of the rear limbs and vice-versa
Special Functions (e.g. respiration; urination)
Vomiting
Inappetence
Muscle Atrophy
Atrophic appearance of shoulder girdle and distal limbs
Behavioral/Mental Awareness
Drowsiness
Anxiety
Decreased responsiveness to verbal commands
Restless
Abrupt change in consciousness when laying down
Posture and Appearance
Wide-based stance in all limbs
Altered tail carriage – tail down
Movement
Stiff gait
Falling
Ataxia
Tetraparesis
Intention tremor
Inability to climb up or down stairs
Involuntary twitching/jerking motions
Circling
Hypermetria
Myoclonus
Cranial Nerves
Decreased bilateral corneal reflex
Decreased/Absent bilateral menace response
Impaired vision
Myoclonic twitching of the face and lips elicited by cranial nerve testing
Spinal Reflexes
Excessively brisk in all four limbs
Reflex testing of the front limbs resulting in myoclonic jerking of the rear limbs and vice-versa
Special Functions (e.g. respiration; urination)
Vomiting
Inappetence
Muscle Atrophy
Atrophic appearance of shoulder girdle and distal limbs
Brain and spinal cord
Autosomal recessive inheritance of mutated HEXB gene
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