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Ullrich-Like Muscular Dystrophy, Variant 2

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Test Overview:

Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type) is an inherited muscle disease in dogs. Affected dogs will present with deformed limbs and hyperflexion of the joints, most notably of the wrist (carpus) and the ankle (hock) giving the dog a flatfooted stance, at around 3 to 4 months of age. Affected dogs may develop muscle Atrophy over time and have abnormal gait. The disease progresses slowly, and dogs can live many years before the disease becomes severe enough to warrant humane euthanasia.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

COL6A2

Variant Detected:

chr25:48289626 (canFam4): C/T

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the COL6A2 gene will reliably determine if a dog is a genetic carrier of Ullrich Congenital Muscular Dystrophy.

Research Citation(s):

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. [PubMed: 32439203] Marioni-Henry K, Haworth P, Scott H, Witte P, Guo LT, Shelton GD. Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med. 2014 Jan-Feb;28(1):243-9. [PubMed: 24147807]

Associated Breed(s):

Labrador Retriever, Mixed Breed,

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