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Mucopolysaccharidosis Type IIIA (Discovered in the New Zealand Huntaway)

Mucopolysaccharidosis Type IIIA (MSP IIIA) is a disease of progressive incoordination, first in the hindlimbs and later progressing to all four legs. Leg movements become erratic when walking and affected dogs have difficulty balancing.

Key Signs

Loss of learned behavior, Lack of coordination, Altered gait, Exaggerated reflexes

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with MPS IIIA

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about MPS IIIA

Mucopolysaccharidosis type IIIA is characterized by central nervous system degeneration, with subsequent progressive ataxia (uncoordinated movement) and hypermetria (exaggerated high-stepping gait) due to inappropriate accumulation of glycosaminoglycans. The first signs of ataxia can be seen in pelvic limbs, progressing to all four limbs. The clinical signs include dysmetric gait, loss of learned behavior, difficulty jumping, and loss of balance. First clinical signs are usually observed at one to two years of age. Affected dogs are usually euthanized within a few months of onset of clinical signs.

This disorder is progressive with no cure. Affected dogs should be closely monitored to assess welfare and devise a supportive care treatment plan. Due to the progressive nature of the disease, affected dogs are often euthanized for welfare reasons within a few months of diagnosis.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the MPS IIIA mutation can be safely bred with a clear dog with no copies of the MPS IIIA mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the MPS IIIA mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the MPS IIIA mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene SGSH
Variant Insertion
Chromosome 9
Coordinate Start 1,544,322
Coordinate End 1,544,323

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Yogalingam, G., Pollard, T., Gliddon, B., Jolly, R. D., & Hopwood, J. J. (2002). Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics, 79(2), 150–153. View the article