Breeds Affected: Finnish Lapphund, Swedish Lapphund
Samples Accepted: Blood, Buccal Swabs
Disease Information: Clinical symptoms of GSD II (Pompe’s Disease) usually first appear between the ages of 8-12 months. Affected pups vomit frequently, show progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Most die or are humanely euthanized before the age of two years.
Inheritance Information: GSD II is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/gsd2 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/gsd2 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
gsd2/gsd2 The dog is affected, and should not be used for breeding.
– Carriers may be bred to normal animals (N/gsd2 x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/gsd2 x N/gsd2) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected dogs (gsd2/gsd2) should not be bred.
Test Information: This mutation test identifies a single base change in the GAA gene.
Seppälä, E.H., Reuser, A.J., Lohi, H.: A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 23457621. DOI: 10.1371/journal.pone.0056825.
Further information is available at the Online Mendelian Inheritance in Animals website.