GM1-Gangliosidosis (GM1)

GM1 gangliosidosis is an inherited metabolic disorder (lysosomal storage disease) that affects the breeds Siberian Husky, Portuguese Water Dog and Shiba Inu, leading to growth disorders (dwarfism) and neurological deficits.

The first symptoms typically appear in puppies at the age of approximately 3–8 weeks. Common signs include progressive weight loss and marked coordination deficits (ataxia), which present as an unsteady, wobbly gait. Many dogs show a wide-based stance to maintain balance. The perception of limb position is often impaired (reduced proprioception), resulting in inaccurate paw placement. Limb movements may appear exaggerated and overreaching (hypermetria) or generally poorly coordinated (dysmetria), causing steps to be either too short or too long. Another noticeable sign is a head tremor during purposeful movements (intention tremor of the head), for example while eating. In addition, ocular abnormalities may occur, such as inward strabismus (internal strabismus) and involuntary eye movements with changes in position (positional nystagmus).

These symptoms worsen with age. Affected dogs typically have a life expectancy of around 8 months. There is currently no available treatment.