Inherited Myopathy of Great Danes
Affected Genes: BIN1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr19:23763085: A>G
Breed: Danoodle
Great Dane
General Information: Inherited Myopathy of Great Danes is a rare, inherited degenerative muscle disorder that typically manifests in affected dogs before one year of age. Symptoms include difficulties with exercise, muscle wasting, and exercise-induced tremors, and affected dogs often adopt an abnormal posture with the hind legs tucked under the body and the tail extended. In some cases, dogs may also experience breathing difficulties. Most dogs with severe symptoms develop a rapidly progressive form of the disease and are euthanized between 1 and 2 years of age. However, some dogs may exhibit a milder form of the disease, allowing them to live into adulthood without significant progression of symptoms.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the BIN1 gene can determine whether a dog is a carrier of Inherited Myopathy of Great Danes, an autosomal recessive disorder. For a dog to develop the disease, it must inherit two copies of the mutated gene, one from each parent. Carrier dogs, which possess only one copy of the mutation, do not show symptoms but can pass the gene to their offspring. When two carriers are bred together, there is a 25% chance of producing affected pups and a 50% chance of producing carrier pups. Reliable genetic testing is crucial for responsible breeding decisions to prevent the birth of affected puppies. To eliminate the mutation from breeding lines and avoid producing affected pups, it is recommended to avoid breeding two known carriers together. Dogs that are not carriers of the mutation do not have an increased risk of having affected offspring.
References:
Böhm J, Vasli N, Maurer M, Cowling BS, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J. Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet. 2013 9(6).
Feliu-Pascual Lujan A, Shelton GD, Targett MP, Long SN, Comerford EJ, McMillan C, Davies D, Rusbridge C, Mellor D, Chang KC, Anderson TJ. Inherited myopathy of great Danes. J Small Anim Pract. 2006 47(5):249-254.
McMillan CJ, Taylor SM, Shelton GD. Inherited myopathy in a young Great Dane. Can Vet J. 2006 47(9):891-893.