Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome, MPS VI

Affected dogs may display facial, limb, and stature abnormalities. They may experience progressive gait changes and decreased mobility, along with or in addition to joint hyperlaxity (extreme flexibility). They may also develop cloudy eyes.

You may notice the first signs of dwarfism as early as three months of age, and eye abnormalities by seven months of age.

Your dog's veterinarian may use genetic testing, clinical signs, and history to diagnose this disease. Urinalysis, bloodwork, and radiographs can all be useful tools for making a diagnosis.

Currently, care is mostly supportive in nature.

Talk to your vet about your dog’s MPS VI result so you can discuss what signs to monitor for and plan supportive care as needed.

The severity of this condition can vary, and some dogs may live for several years with good management and monitoring.

Provide a calm, predictable environment and help your dog avoid activities that could strain their joints or cause injury.

Make your home comfortable and easy to navigate by providing soft bedding, rugs for traction, and minimizing stairs. Offer gentle, low-impact ways for your dog to stay active, such as hiding treats under cups or using a puzzle feeder.

This variant was first identified in Miniature Pinschers.

Penetrance: This form of MPS VI has an autosomal recessive mode of inheritance; that is, a dog requires two copies of the variant to show signs of the disease from it. Carrier dogs are reported to have intermediate enzyme activity when compared to clear and affected dogs; however, this causes no clinical abnormalities.

Gene

ARSB Exon 5

Inheritance type

recessive

Clinical category

Metabolic

Citations

1. Raj et al 2020
2. Neer et al 1995
3. Wang et al 2018

• Miniature Pinscher