Lysosomal Storage Disease

Body function:

Metabolic & Digestive

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Lysosomal storage disease, or neuronal ceroid lipofuscinosis (NCL4), is a genetic disorder caused by a mutation in the ARSG gene, which encodes the lysosomal enzyme arylsulfatase G. This enzyme is responsible for breaking down molecules with lysosomes, the cell's recycling centers. When the ARSG enzyme is deficient, waste accumulates in cells, leading to cellular dysfunction and death. The disorder is most commonly seen in American Staffordshire Terriers, presenting as a late-onset, slowly progressive condition. In affected dogs, this condition leads to neurological degeneration that affects cognitive and motor function.

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List of affected breeds:

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

American Staffordshire Terrier

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What does this mean for a dog with this trait?

There is no treatment for lysosomal storage disease, so vets will focus on supportive care. Owners should work closely with vets to manage symptoms, including seizures and mobility issues, and to monitor the dog's quality of life.

Symptoms

Dogs affected by ARSG-related lysosomal storage disease typically exhibit neurological signs, including behavioral changes, ataxia (lack of coordination), cognitive decline, and seizures. These symptoms appear gradually and worsen over time, leading to motor degeneration. Cognitive function also diminishes as the disease progresses, and dogs may experience disorientation or difficulty with tasks they previously managed. In severe cases, the buildup of cellular waste can lead to premature death.

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