Muscular Dystrophy (MD) – Golden Retriever
Code: H747
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 occurs in the Golden Retriever, and is also sometimes known as Golden Retriever Muscular Dystrophy (GRMD).
Specifications
| Breeds | |
|---|---|
| Gene | DMD |
| Chromosome | X |
| Mutation | c.531-2A>G |
| 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
Clinical signs are shuffling gait or shortened stride, inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles. Signs start presenting at approximately 8 weeks of age, and are ultimately fatal.
References
Pubmed ID: 1577476
Year published: 1992
Omia ID: 1081
Omia variant ID:
Turnaround information
- 15 working days