Exercise-Induced Collapse (EIC)

 

Gene:  DNM1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, DNM1 gene; c.767 G>T, p.(R256L), exon7

Medical system: Musculaire neurologic

Breeds: American Cocker Spaniel, American Staffordshire Terrier/Amstaff, Australian Kelpie, Beagle, Border Collie, Bouvier des Flandres, Boxer, Boykin Spaniel, Cardigan Welsh Corgi, Catahoula Leopard Dog, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, Clumber Spaniel, Collie, Coton de Tulear, Curly-Coated Retriever, Dalmatian, English Cocker Spaniel, English Springer Spaniel, German Shepherd, German Wirehaired Pointer, Golden Retriever, Great Pyrenees, Labrador Retriever, Maltese Terrier, Old English Sheepdog, Pembroke Welsh Corgi, Pomeranian, Poodle - Miniature (Dwarf), Poodle - Standard, Rhodesian Ridgeback, Rottweiler, Schnauzer - Miniature, Shih Tzu, Siberian Husky, Vizsla, Weimaraner, Yorkshire Terrier

Age of onset of symptoms:  Before the age of 2 years

Exercise-Induced Collapse (EIC) is a genetic neuromuscular disorder seen in a number of dog breeds and is particularly prevalent within retriever breeds.  Before two years of age and after strenuous exercise, otherwise healthy dogs show episodes of muscle weakness, lack of coordination and flaccid paralysis, particularly of the hind limbs but progressing to the front limbs.  This leads to a wobbly gait, collapse, and in rare instances can lead to death.  There is an increase in body temperature, and the condition can be confused with heat stroke.  Episodes typically last for 5 to 10 minutes with full recovery after 30 minutes.  During episodes, the dog is conscious and is not in pain.  Episodes are caused by an inability of nerve cells to provide adequate amounts of neurotransmitter during periods of intense stimulation.

 

References:

Labgenvet blog

OMIA link: [1466-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Norton EM, Minor M, Taylor M, et al. (2021) Heritability and genomic architecture of episodic exercise-induced collapse in Border Collies. Genes (Basel) 12:1927.  [pubmed/34946876]

Furrow E, Minor KM, Taylor SM, Mickelson JR, Patterson EE. (2013) Relationship between dynamin 1 mutation status and characteristics of recurrent episodes of exercise-induced collapse in Labrador Retrievers. J Am Vet Med Assoc. 15;242(6):786-91. [pubmed/23445289]

Minor KM, Patterson EE, Keating MK, et al. (2011) Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds. Vet J. 189(2):214-9. [pubmed/21782486]

Patterson EE, Minor KM, Tchernatynskaia AV, et al. (2008) A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nature Genetics 40(10) :1235. [pubmed/18806795]