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Ullrich-Type Muscular Dystrophy (MD) is a muscle disorder in the Labrador Retriever that primarily causes weakness and deformation of the limb muscles.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Ullrich-Type Muscular Dystrophy (MD) is a muscle disorder in the Labrador Retriever that primarily causes weakness and deformation of the limb muscles. The disorder can be caused by one of two known mutations to the gene COL6A3. The mutation analysed in this test, referred to here as variant 2, is dominant. The other, variant 1, is recessive.
Clinical features
The primary symptom of this disorder is muscle atrophy of the limbs, which is paired with tarsal and carpal hyperextension (overextension of the wrist and ankle joints, causing a flat-footed stance), as well as hypometria (underextending the limbs while walking) and a relatively small body size and weight.
Additional information
Two different mutations can cause this disorder. This test only covers one of them.
References
Pubmed ID: 32439203
Omia ID: 2274