Ullrich-like Congenital Muscular Dystrophy

Affected dogs may only be able to walk a few steps before lying down and have a short stride and generalized muscle wasting (atrophy). The large joints may be kept in a slightly flexed position or have a decreased range of motion. Some dogs may have a dilated esophagus (megaesophagus) leading to difficulty with swallowing, regurgitation, salivation, and aspiration pneumonia.

Affected dogs may show signs at 6-8 weeks of age with small size, reluctance or decreased ability to move, and prolonged sleeping episodes. The disease progresses into young adulthood (when dogs are typically euthanized due to quality of life concerns).

Genetic testing, clinical signs, and muscle biopsy can be used to diagnose this disorder.

Frank discussions about quality of life are likely warranted. While few cases have been reported, affected dogs have had to be euthanized at 1-15 months of age due to the severity of their clinical signs.

Talk to your vet about your dog’s muscular dystrophy result so you can plan appropriate monitoring and care.

Signs such as muscle weakness, stiffness, or difficulty walking may appear early in life and can progress over time.

Keep your dog’s environment calm and free from slippery surfaces to help them move safely and prevent falls.

As this condition can worsen gradually, gentle exercise, supportive care, and a predictable routine can help maintain your dog’s comfort and mobility.

This variant was first identified in the Landseer. While researchers found this variant in Landseers and not in Newfoundlands, given the genetic similarity and the interbreeding of Landseers and Newfoundlands in certain countries, Newfoundlands with two copies of the variant would be expected to have Ullrich-Like Muscular Dystrophy.

Penetrance: Ullrich-like Congenital Muscular Dystrophy is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the variant to show clinical signs from it.

Gene

COL6A1 Exon 3

Inheritance type

recessive

Clinical category

Muscular

Citations

1. Steffen et al 2015
2. Brands et al 2021
3. Bolduc et al 2020

• Landseer
• Newfoundland