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Muscular Dystrophy (Cavalier King Charles Spaniel Type)

Affected Genes: DMD

Inheritance: Autosomal Dominant

Variant(canFam6):
chrX:31936919: C>A

Breed: Cavalier King Charles Spaniel

General Information: Muscular Dystrophy (Cavalier King Charles Spaniel Type) is a hereditary muscle disorder that typically appears in dogs around 3 to 4 months of age. This condition is caused by a mutation in the DMD gene, which encodes dystrophin, a protein essential for muscle fiber integrity. Affected dogs exhibit symptoms such as progressive muscle weakness, difficulty walking, frequent falls, muscle atrophy, and an abnormal gait. The disease progresses slowly, and while supportive care can help manage symptoms and improve quality of life, there is currently no cure. Affected dogs may live for several years before the condition becomes severe enough to warrant humane euthanasia.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the DMD gene identifies whether a dog is a carrier of Muscular Dystrophy (Cavalier King Charles Spaniel Type). This disease is inherited in an X-linked recessive manner, meaning that males (with one X chromosome) are more likely to be affected if they inherit the mutation, while females (with two X chromosomes) are typically carriers if they inherit one copy of the mutation. Carrier females may pass the gene to their offspring, with male puppies having a 50% chance of being affected and female puppies having a 50% chance of being carriers. To prevent affected offspring and eliminate the mutation from breeding lines, it is advised not to breed carrier females with affected or carrier males. Dogs that are not carriers pose no increased risk of having pups with the disease.


References:
Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, Nagel N, Holder A, Stanley R, Chandler K, Marks SL, Muntoni F, Shelton GD, and Piercy RJ. A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 2010 5(1):e8647.