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Hormones and metabolism

GM2 gangliosidosis

This is an inherited storage disease in which the body lacks an enzyme that breaks down certain fatty substances in nerve cells. These substances build up in the brain and spinal cord and gradually disrupt how the nervous system works. The disease appears in young dogs and progresses over time.

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1 breed

What it is

Nerve cells constantly build and recycle fatty substances called gangliosides inside small compartments that work like recycling bins. When the enzyme, or the helper protein it needs, is missing, one kind of ganglioside cannot be broken down, the bins overfill, and the nerve cells swell and stop working properly, first in the brain and later throughout the nervous system.

The disease is inherited: a puppy is affected when it receives a faulty gene from both parents, while dogs that carry a single copy stay healthy themselves. Puppies seem normal at first, and the changes creep in over the following months.

Living with an affected dog means making its world simpler and safer: soft flooring, no stairs or open water, short and calm outings, and help with eating and moving as its coordination fails. Throughout, your vet follows the changes with you.

Signs you may notice

You may notice a young dog becoming unsteady on its feet, swaying, trembling in the head or body, or growing clumsy. Later its vision and behaviour may change, and its movements become harder and harder to control.

When to see a vet

Book a visit if a young dog becomes unsteady, trembles or seems clumsier than it should, and if it has a seizure, it needs a vet immediately.

This is general information, not veterinary advice. For your own dog's health, tests and treatment, see a vet.

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