Inflammatory Myopathy (Myositis)
Kodas: H867
Short description
Inflammatory Myopathy in the Dutch Shepherd is a severe, progressive neuromuscular disease that results in weakness, muscle atrophy and an inability to walk.
General information
Inflammatory Myopathy in the Dutch Shepherd is a severe, progressive neuromuscular disease that results in weakness, muscle atrophy and an inability to walk. The disorder is caused by a recessive mutation to the gene SLC25A12. A related variant, known as Cerebellar Degeneration-Myositis Complex, is found in the Nova Scotia Duck Tolling Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | SLC25A12 |
| Chromosome | 36 |
| Mutation | c.1046T>C |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected dogs present between the ages of 3 and 9 months with progressively developing muscle weakness and atrophy. Signs may include stiffness of the limbs, tremors and an increasing inability to walk. Due to the severe and progressive nature of the disease, euthanasia on humane grounds is likely to be necessary by the age of 2 years.
References
Pubmed ID: 31594244
Year published: 2019
Omia ID: 2294
Omia variant ID:
Turnaround information
- 10 working days