Testing of dogs: DMD in Cavalier King Charles Spaniel (two mutations)

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Usual turnaround time: 12 business days
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Duchenne muscular dystrophy in Kavalier King Charles Spaniels

Duchenne muscular dystrophy (DMD) is a disease characterized by progressive muscle weakness that is ultimately fatal. Clinical signs begin to appear in puppies between 8 and 10 weeks of age and include a stiff gait or shortened stride, inability to fully open the jaw, difficulty swallowing, excessive salivation and marked wasting of the muscles of the body and limbs.

Duchenne muscular dystrophy is caused by a mutation in the DMD gene encoding dystrophin. Dystrophin is a cytoskeletal protein found mainly in smooth, cardiac, and skeletal muscles and in neurons in specific areas of the central nervous system. It mediates communication between cytoskeletal actin and intercellular proteins. The absence of dystrophin can lead to a failure of the exocytosis process, causing plasma membrane instability, muscle hypercontraction and ultimately muscle fibre degeneration.

In Cavalier King Charles Spaniel breed, the disease is caused by a lethal X-linked mutations c.7294+5G>T and c.6057_6063del.

This means that it is localized on the X chromosome. Since the genotype of males is composed of X and Y chromosomes, they can be healthy (unaffected by the mutation) or affected. The female genotype contains two X chromosomes, so females can be either healthy, carriers or affected. Female carriers usually do not show clinical signs but are able to pass the mutated allele to their offspring. Related females of affected males should be tested to identify carriers. Breeding of female carriers is not recommended. A genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.



Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., 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 5:e8647, 2010. Pubmed reference: 20072625

Nghiem, P.P., Bello, L., Balog-Alvarez, C., Mata López, S., Bettis, A., Barnett, H., Hernandez, B., Schatzberg, S.J., Piercy, R.J., Kornegay, J.N. : Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy Mammalian Genome , 2016. Pubmed reference: 28028563

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Usual turnaround time: 12 business days
1 test price: 64.00 $ without VAT