GM1-Gangliosidosis (GM1) in the Portuguese Water Dog (PWD) is an inherited storage disorder that causes a fatal disease in puppies. Research conducted by Wang et al. (J. Inherit. Metab. Dis. 23, 2000; 593-606) identified the GM1 causal mutation and DNA testing had been provided by the research group at New York University until mid-2013. In July 2013, an exclusive license of the patented GM1 was transferred to OptiGen where the test is now available.
PWD puppies affected with GM1-Gangliosidosis develop nervous system manifestations including ataxia, seizures and changes in temperament. Dogs affected with GM1-Gangliosidosis rarely survive beyond 6 months of age.
To avoid producing GM1-affected puppies, breeders are encouraged to test their dogs before they are bred, and to refrain from breeding two carriers to each other. The table below highlights in yellow the breedings that will NOT produce GM1-affected pups. These breedings include at least one parent proven "Normal/Clear" by the OptiGen GM1 test. All other combinations are at risk of producing affected pups.