Lafora disease (NHLRC1-related progressive myoclonic epilepsy) in Dogs

Breeds documented
3
Published sources
2

Overview

Abnormal clumps of stored carbohydrate build up inside nerve cells in this inherited disorder. Lafora disease causes epilepsy with brief, shock-like muscle jerks, called myoclonus, and it gradually damages the nervous system. Jerks may occur spontaneously or follow light, sound or sudden movement. As the disease progresses, some dogs develop more severe seizures, balance problems, loss of vision and changes in memory or behavior.

Signs to watch for

  • Brief, sudden muscle jerks
  • Jerking triggered by bright light, sudden sounds or nearby movement
  • Seizures
  • Worsening balance and coordination
  • Later vision loss, confusion or behavior changes

Later adulthood is typical; studied Miniature Wirehaired Dachshunds averaged about seven years at first signs.

When to get help Arrange a veterinary visit soon for new muscle jerks or seizures.

Diagnosis and tests

Vets consider the pattern of muscle jerks and seizures alongside the dog's age and medical history. A DNA test for the NHLRC1 repeat expansion can identify dogs with two copies of the disease-associated variant, carriers and dogs without that variant. Testing can help confirm a suspected case and guide breeding decisions.

Breeds with documented risk

3 breeds

By breed size
  • 2 Small
  • 1 Medium

Inheritance

  • Not yet known

    None of the sources we use states how this is inherited in dogs yet.

We've gathered what published sources say about this condition, so you can talk it through with your vet. It isn't veterinary advice: you and your vet know your dog best.

Sources

  1. journals.plos.org
  2. pmc.ncbi.nlm.nih.gov