Glycogenosis Type II (Pompe Disease)
Glycogenosis Type II causes a deficiency in the enzyme acid a-glucosidase which causes defects in the catabolism of glycogen resulting in its accumulation in neuron lysosomes and cytoplasm.
Age of Onset: 4-12 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
“Apathetic habitus”
Posture and Appearance
Loss of condition
Movement
Muscle Weakness
Special functions (e.g. respiration; urination)
Esophageal dilation induced vomiting
Clinical heart disease
Myocardial hypertrophy
Other
Dysphonia
Behavioral/Mental Awareness
“Apathetic habitus”
Posture and Appearance
Loss of condition
Movement
Muscle Weakness
Special functions (e.g. respiration; urination)
Esophageal dilation induced vomiting
Clinical heart disease
Myocardial hypertrophy
Other
Dysphonia
Diffuse CNS
Autosomal recessive inheritance - Nonsense Mutation in the acid a-Glucosidase (GAA gene mutation)
For breed specific genetic testing, follow the links below:
https://embarkvet.com/products/dog-health/health-conditions/glycogen-storage-disease-type-ii-pompes-disease-gsd-ii/
https://www.genomia.cz/en/test/gsdii/
For breed specific genetic testing, follow the links below:
https://embarkvet.com/products/dog-health/health-conditions/glycogen-storage-disease-type-ii-pompes-disease-gsd-ii/
https://www.genomia.cz/en/test/gsdii/
To read more about this disease click below:
