Mucopolysaccharidosis Type VII (Brazilian Terrier)

Body function:

Muscle & Neurological

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Mucopolysaccharidosis type VII, also known as sly syndrome, is a hereditary lysosomal storage disorder primarily affecting Brazilian Terriers. This condition results from a mutation in the GUSB gene, leading to insufficient activity of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down glycosaminoglycans (GAGs), which are components of connective tissue, cartilage, tendons, and other body structures. When the enzyme is deficient, GAGs accumulate within cells, causing permanent damage and leading to a range of symptoms.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Brazilian Terrier

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What does this mean for a dog with this trait?

There is no cure for MPS VII, and care is largely supportive. Most puppies do not survive beyond a few months. Palliative care is typically provided to manage pain and discomfort, but euthanasia is often considered due to the severe and debilitating nature of the disease.

Symptoms

MPS VII manifests early, with symptoms typically appearing within the first month of life. Affected puppies show a range of skeletal abnormalities, including shortened, broad faces, low-set ears, and broad chests. As the disease progresses, other symptoms, such as corneal clouding, swollen and easily dislocated joints, and difficulty standing and walking, become evident. Affected puppies may also appear smaller than their healthy littermates. The disease is progressive and severely impacts quality of life, often leading to early death.

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