COL6A1-Related Ullrich Muscular Dystrophy in Dogs

Category
Muscle
Breeds documented
1
Published sources
3

Overview

A change in COL6A1 has been linked to a severe inherited muscle disease in Landseer puppies. The gene helps make collagen VI, a protein associated with the structure and function of muscle. Affected puppies develop worsening weakness and muscle loss that can greatly limit walking. Some also have stiff joints or difficulty swallowing, and the reported disease has been severe early in life.

Signs to watch for

  • Reluctance to move and sleeping much more than littermates
  • Walking only a few steps before lying down
  • Muscles becoming visibly smaller
  • An arched back and short, stiff steps
  • Difficulty swallowing or bringing food back up

In the reported Landseer families, signs began in the first weeks of puppyhood.

Emergency Call a vet now if your puppy develops muscle weakness.

Diagnosis and tests

The reported dogs underwent physical examinations, checks of their nervous system, blood and urine tests, and electrical tests of muscles and nerves. Biopsies, small muscle samples examined under a microscope, showed damage consistent with an inherited muscle-wasting disease. DNA testing for the identified COL6A1 change can help identify affected dogs and carriers in Landseers.

Breeds with documented risk

1 breed

By breed size
  • 1 Giant

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. ebi.ac.uk
  2. neurology.vetmed.ucdavis.edu
  3. Landseer (european Continental Type): pmc.ncbi.nlm.nih.gov