Combination Dalmatian

General description

includes: Acute respiratory distress syndrome (ARDS), Disproportionate dwarfism, Hyperurikosuria (HUU/SLC), Lysosomal storage disease (LSD), B-locus, E-locus e1

Breeds

Dalmatian

Acute respiratory distress syndrome (ARDS)

Hyperuricosuria (HUU/SLC)

E-locus e1 (apricot, cream, lemon, red, yellow)

B-locus (alleles: bd, bc, bs) (brown, chocolate, liver(nose))

Disproportionate dwarfism - Dalmatian

The first cases of documented severe skeletal dysplasia in Dalmatian dogs were noted in the early 1980s, followed by sporadic cases in the following years. Skeletal dysplasias represent a group of inherited diseases causing abnormalities in cartilage and bone, resulting in short stature and dwarfism. In Dalmatians, chondrodysplasia (a subset of skeletal dysplasia) can be found, which primarily affects endochondral ossification (the process by which cartilage is converted into bone) leading to disproportionate limb shortening.

Affected dogs show short legs and clear gait abnormalities, both becoming visible at the age of two to three months. The front legs are curved with an outward-angled elbow joint and an outward rotation of the paw. Radiological examination revealed severe limb deformities, including shortened radii and ulnae as well as tibia and fibula, irregular growth plates and disrupted endochondral ossification. The axial skeleton is shorter in length compared to unaffected dogs.

A genetic variant of the PRKG2 gene has been found to be associated with the disease in the Dalmatian breed.  The PRKG2 encoded protein plays a crucial role in endochondral ossification. Extended screening of the variant revealed its continued segregation in the current Dalmatian population.