Cerebelläre Degeneration mit Myositis (CDMC)
Cerebellar degeneration and myositis complex (CDMC)
General description
A mutation in the gene SLC25A12 was identified which causes Cerebellar Degeneration - Myositis Complex (CDMC) in the breed Nova Scotia Duck Tolling Retriever. Affected dogs develop first symptoms at the age between 10 weeks and 6 months. Clinical signs are generalized ataxia, hypermetria, a delay in hopping and a decrease in withdrawal reflexes in all four limbs.
Breeds
Nova Scotia Duck Tolling Retriever
Order details
| Test number | 8788 |
| Abbreviation | CDMC |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 10 weeks to 6 months |
| Causality | causally |
| Gene | SLC25A12 |
| Mutation | G-A |
| Literature | OMIA:002294-9615 |
Detailed description
A mutation in the gene SLC25A12 was identified which causes Cerebellar Degeneration - Myositis Complex (CDMC) in the breed Nova Scotia Duck Tolling Retriever. Affected dogs develop first symptoms at the age between 10 weeks and 6 months. Clinical signs are generalized ataxia and hypermetria. One of four affected dogs included in the study also showed head tremor, others showed generalized, neuromuscular weakness including exercise intolerance, episodic collapse, stiff gait and bunny hopping. Other symptoms are a delay in hopping and a decrease in withdrawal reflexes in all four limbs. MRI examination showed bilateral symmetrical lesions in the cerebellum and multifocal lesions in the masticatory muscles. Biopsies showed a fiber-invasive lymphohistiocytic myositis and increased serum creatine kinase concentrations were measured in the blood. The mutant allele frequencies are 3.6 % in the European cohort and 1,3 % in the North American cohort.
