Muscular Dystrophy (MD) – Border Collie
Code: H912
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 leads to a gradual breakdown of the dog’s muscles and is ultimately fatal. The disease is caused by an X-linked recessive mutation in the DMD gene. As an X-linked recessive disease, it primarily affects male dogs, while females may mostly be carriers.
This specific variant of the disorder is found in the Border Collie.
Specifications
| Breeds | |
|---|---|
| Gene | DMD |
| Chromosome | X |
| Mutation | c.2841delA |
| 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 typically appear between 8 and 10 weeks of age. Affected dogs show progressive muscle weakness and wasting, especially in the limbs and trunk. Common symptoms include a stiff or abnormal gait, difficulty walking, running, jumping, or standing. As the disease progresses, muscles involved in chewing, swallowing, and breathing may also be affected, leading to excessive drooling, feeding difficulties, and potential respiratory complications.
References
Pubmed ID: 29843823
Year published: 2018
Omia ID: 1081
Omia variant ID:
Turnaround information
- 15 working days