Disease overview

Muscular dystrophy is a group of degenerative muscle disorders that are characterized by progressive muscle dysfunction. This type is caused by a mutation in a gene that produces collagen VI, a protein that is crucial for the muscle.

Gene name

COL6A3

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will show general signs of muscle degeneration at a young age. This is a severe form of muscular dystrophy, typically leading to euthanasia between 5-15 months of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Bolduc V, Minor KM, Hu Y, Kaur R, Friedenberg SG, Van Buren S, Guo LT, Glennon JC, Marioni-Henry K, Mickelson JR, Bönnemann CG, Shelton GD. Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscul Disord. 2020 May;30(5):360-367. doi: 10.1016/j.nmd.2020.03.005. Epub 2020 Apr 16. PMID: 32439203; PMCID: PMC7292757.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.