Gangliosidosis Type 1 (GM1)
Gangliosidosis (GM1) 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: 4-7 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
Aggression
Dementia
Seizures
Movement
Ataxia
Dysmetria/Hypermetria
Wide-based stance
Head Tremor
Spastic paraplegia or tetraplegia
Proprioception
Proprioceptive deficits
Cranial Nerves
Visual Impairment
Positional nystagmus
Strabismus
Other
Proportional dwarfism
Weight loss
Death
Behavioral/Mental Awareness
Aggression
Dementia
Seizures
Movement
Ataxia
Dysmetria/Hypermetria
Wide-based stance
Head Tremor
Spastic paraplegia or tetraplegia
Proprioception
Proprioceptive deficits
Cranial Nerves
Visual Impairment
Positional nystagmus
Strabismus
Other
Proportional dwarfism
Weight loss
Death
Brain and spinal cord
Autosomal recessive inheritance - Beta-galactosidase deficiency (GLB1 Missense point mutation)
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