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Cavalier King Charles Spaniels with dystrophin-deficient muscular dystrophy (CKCS-MD) experience the canine homologue of human Duchenne muscular dystrophy (DMD).
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | DD-MD, X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy, DMD |
| Year Published |
General information
Cavalier King Charles Spaniels with dystrophin-deficient muscular dystrophy (CKCS-MD) experience the canine homologue of human Duchenne muscular dystrophy (DMD). The disorder is caused by an X-linked recessive mutation to the gene DMD.
Canine muscular dystrophy (CMD) is also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented.
Clinical features
Cavalier King Charles Spaniels muscular dystrophy (CKCS-MD) is characterised by progressive weakness and muscle wasting, eventually causing death.
Additional information
The molecular basis of the dystrophin mutation may be different between breeds. In the Cavalier King Charles Spaniel the reported cause is a missense mutation in the 5′ donor splice site of exon 50.
References
Pubmed ID: 20072625
Omia ID: 1081
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