Muscular Dystrophy (MD) – American Staffordshire Terrier
Code: H155
Short description
Muscular Dystrophy (MD) is a muscle disorder in the American Staffordshire Terrier.
General information
Muscular Dystrophy (MD) is a muscle disorder in the American Staffordshire Terrier. It is also known as Ullrich-Type congenital muscular dystrophy and primarily causes diffuse muscle atrophy and multifocal joint contractures with limited flexibility. The disorder is caused by an autosomal recessive mutation in the Collagen Type VI Alpha 3 Chain (COL6A3) gene.
Other Ullrich-Type variants of muscular dystrophy are available for the Labrador Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | COL6A3 |
| Chromosome | 25 |
| Mutation | c.6398del |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Typically cerebellar ataxia manifests around 4 weeks of age. Affected puppies show symptoms such as an uncoordinated gait, wide stance, intention tremors, balance issues, and exaggerated movements (hypermetria). Some mild improvement in function can occur as the dog matures, due to the dog learning to compensate for the deficit with other sensory inputs and motor strategies. Then the dog can have a fairly normal life. On humane ground, euthanasia can be performed on affected dogs when functional adaptation does not occur in the brain and symptoms are permanent.
References
Pubmed ID: 37706358
Year published: 2023
Omia ID: 2274
Omia variant ID:
Turnaround information
- 15 working days