Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII
A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. Mucopolysaccharidoses (MPS) are defined by abnormal buildup of glycosaminoglycans, large sugar-protein molecules that are important for skeletal and joint function.
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Signs and symptoms
Puppies display severe skeletal abnormalities, have large heads with short muzzles, broad faces, and such crooked legs that they cannot walk.
Signs are apparent at 4-8 weeks of age and affected dogs are unable to walk by 5 months of age -
Diagnosis
Clinical signs and genetic testing used to diagnose this disease.
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Treatment
There is no treatment except supportive care for the clinical signs the affected dog develops.
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What to do if your dog is at risk
Actions
- Focus on palliative therapies to increase your dog's comfort and quality of life.
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Genetic Information
This mutation was first described in German Shepherd x Beagle crosses.
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.
Gene names:
GUSB ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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