Disease Ontology ID: DDTO:0000256

Disease Description: A group of progressive multifocal neurologic disorders caused by specific enzyme deficiencies leading to death of nerve cells and accumulation of their respective enzyme substrates in cells

Inherit Mode: Where inheritance has been determined, it is autosomal recessive.

Disease Symptom: These disorders, fortunately rare, are devastating. Pups are normal at birth and then gradually (most commonly before 1 year of age) develop signs of neurologic disease. Their demeanor, behaviour and motor abilities are affected to varying degrees depending on the disorder, but the condition always worsens until the dog dies or is euthanized, usually within 6 months of the first signs.

Disease Cause: -

Disease Diagnose: These conditions are difficult to diagnose, both because they are very uncommon and because the clinical signs are often vague (eg.depression, behaviour change). Generally the routine diagnostic tests your veterinarian will carry out will show no abnormalities. Once a lysosomal storage disease is suspected, your veterinarian will submit a blood sample for specific diagnostic tests which are now available for many of these disorders. These tests measure blood levels of the particular enzyme involved, and many can detect carriers of the disorder (who have about 50 per cent normal enzyme levels) as well as affected dogs. For those disorders in which the specific genetic defect has been identified, it is likely that before long there will be a DNA test that can be used to differentiate normal, carrier, and affected dogs.

Treat Method: Unfortunately there is no treatment available for these disorders, which can only be controlled by good breeding programmes. As gene therapies emerge, they will likely first be developed for these conditions, many of which are controlled by a single gene and involve a single defective enzyme.

Breeder Advice: Affected animals and their parents (carriers of the defective gene) should not be bred. Siblings are suspect carriers and should only be used for breeding if a screening test has been carried out, showing that they are not carriers. In this way, these devastating diseases can be greatly reduced or eliminated from the breeds in which they occur.

Disease Description Source: Link