Muscular Dystrophy (MD) – Cavalier King Charles Spaniel
Code: H359
Short description
Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans.
General information
Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the DMD gene.
The variant analysed in this test is found in the Cavalier King Charles Spaniel, and is sometimes known as Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD).
Specifications
| Breeds | |
|---|---|
| Gene | DMD |
| Chromosome | X |
| Mutation | c.7293+5G>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | DD-MD; X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy; DMD |
Clinical features
The disorder 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
Year published: 2010
Omia ID: 1081
Omia variant ID:
Turnaround information
- 15 working days