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Multisystem

This is a Multisystem condition.

Neuronal Ceroid Lipofuscinosis

What is NCL?

This form of lysosomal storage disease can cause juvenile to adult-onset neurologic signs, depending on the affected gene. While lipofuscin is commonly observed in the tissues of aged animals, dogs with NCL show an inappropriate accumulation of lipofuscin in the cells of the retina and the brain as early as 6 months and as late as 6 years, depending on the gene affected. Common symptoms reflect central nervous system malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time. While gene therapy trials in mouse models have proven promising, these are far from being used in the clinic.

What are the signs & symptoms that develop in affected dogs?

Common symptoms reflect central nervous system malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time.

When do signs and symptoms develop?

Age of onset appears to be approximately one year of age.

How do vets diagnose this condition?

NCL is definitively diagnosed through genetic testing or examination of central nervous system (CNS) tissues after the affected dog is deceased. Clinical signs of this disease may mimic many other CNS diseases, so examination by a veterinarian or veterinary neurologist is required. Advanced imaging (CT or MRI scan) and/or spinal taps may be performed to rule out other diseases.

How is this condition treated?

Currently, there is no treatment for NCL. While gene therapy trials in mouse models have proven promising, there is much more research required before it can be used in veterinary hospitals.

What actions should I take if my dog is affected?

Keeping your affected dog comfortable at home is the best therapy you can provide. Slings can be used to assist with their mobility. Blind dogs benefit from leaving your furniture in the same place and being put on leashes in unfamiliar territory. Please give your dog any medication as prescribed by your veterinarian.

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