Muscular Dystrophy (MD) – Landseer
Kodas: H969
Short description
Ullrich-like Muscular Dystrophy (UCMD or MD) is a severe muscle disorder occurring in the Landseer.
General information
Ullrich-like Muscular Dystrophy (UCMD or MD) is a severe muscle disorder occurring in the Landseer. The disease leads to progressive muscle weakness and is likely to lead to death or require euthanasia within the first year of life. It is caused by a recessive mutation to the gene COL6A1.
Specifications
| Breeds | |
|---|---|
| Gene | COL6A1 |
| Chromosome | 31 |
| Mutation | c.289G>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | UCMD; MD |
Clinical features
Affected puppies start suffering from severe progressive muscle atrophy, with weak muscles and stiff joints, within several weeks of life. They are reluctant to move, and they tend to sleep more than littermates. Reflexes and mental alertness remain normal. Further symptoms can include difficulty swallowing and breathing, as well as an elevated body temperature. Euthanasia due to poor quality of life is likely to be necessary within the first year.
References
Pubmed ID: 26438297
Year published: 2015
Omia ID: 1967
Omia variant ID:
Turnaround information
- 10 working days