Glycogen Storage Disease Type II, Pompe's Disease, GSD II

This form of glycogen storage disease can cause progressive weight loss, vomiting/regurgitation, and cardiac abnormalities. Breathing difficulties secondary to heart failure and/or megaesophagus are also common.

Onset of signs is typically around 6 months and rapidly progresses until death around 1.5 years.

Genetic and laboratory testing used to diagnose this disease. Imaging modalities (radiographs, ultrasound) are used to diagnose secondary complications.

There is no treatment except supportive care for the clinical signs the affected dog develops.

Talk to your vet about your dog’s glycogen storage disease type II result so you can work together to plan ongoing care and monitoring.

Schedule regular checkups to monitor your dog’s heart, muscle strength, and breathing, as these areas can be affected over time.

Work with your vet to provide supportive care that keeps your dog comfortable and helps manage any feeding or breathing difficulties.

Keep your dog’s environment calm and cool, and avoid strenuous exercise or excitement.

This mutation was first described in Finnish and Swedish Lapphunds.

Penetrance: This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.

Gene

GAA (Exon 15)

Inheritance type

recessive

Clinical category

Multisystem

Citations

1. Seppala et al 2013

• Finnish Lapphund
• Lapponian Herder
• Swedish Lapphund