Mucopolysaccharidosis Type VII

Body function:

Muscle & Neurological

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Mucopolysaccharidosis type VII (MPS VII) is a severe lysosomal storage disorder primarily affecting German Shepherd, Laekenois, Malinois, and Tervuren breeds. The condition is caused by a mutation in the GUSB gene, leading to a deficiency in the enzyme beta-glucuronidase, which is essential for breaking down glycosaminoglycans (GAGs). When this enzyme is deficient, GAGs accumulate in cells, particularly in tissues like bone, cartilage, and connective tissue, resulting in progressive and debilitating symptoms.

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List of affected breeds:

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

Giant Schnauzer

A black and white dog with a happy expression is looking up at the camera with its mouth open. The dog's ears are perked up, and it appears to be excited.

What does this mean for a dog with this trait?

There is no cure for MS VII. Instead, care focuses on managing symptoms and providing care to improve quality of life. Given the progressive nature of the disease, affected puppies often require early intervention to manage pain and improve mobility, though the prognosis remains poor. Euthanasia is commonly considered due to the severe and progressive symptoms.

Symptoms

The onset of MPS VII symptoms is early and progressive, typically becoming apparent within the first month of a puppy's life. Affected puppies often have distinctive physical features such as shortened broad faces, low-set ears, and broad chests. As the disease progresses, other symptoms may emerge, including corneal clouding, severe growth retardation, and difficulty standing and walking. Affected dogs also suffer from joint laxity, which can lead to swollen and easily dislocated joints, making movement increasingly difficult.

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