Cerebellar Degeneration-Myositis Complex (CDMC) – NSDTR
Kodas: H284
Short description
Cerebellar Degeneration-Myositis Complex (CDMC) is a severe, degenerative neuromuscular disorder that causes muscle weakness, atrophy and ultimately death.
General information
Cerebellar Degeneration-Myositis Complex (CDMC) is a severe, degenerative neuromuscular disorder that causes muscle weakness, atrophy and ultimately death. It is caused by a recessive mutation to the gene SLC25A12. The variant of the disease analysed in this test is found in the Nova Scotia Duck Tolling Retriever, particularly in the European population. A closely-related variant is also found in the Dutch Shepherd.
Specifications
| Breeds | |
|---|---|
| Gene | SLC25A12 |
| Chromosome | 36 |
| Mutation | c.1337C>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CDMC |
Clinical features
Onset of symptoms in affected puppies can occur between 10 weeks and 6 months of age. The main signs are ataxia (loss of coordination), head tremors, and hypermetria (over-extending the limbs while walking), particularly in the hind limbs. As the disease progresses, it can further result in exercise intolerance, a stiff gait, episodes of collapse, and a tendency towards “bunny hopping”. Euthanasia on humane grounds may be necessary.
References
Pubmed ID: 35886006
Year published: 2022
Omia ID: 2294
Omia variant ID:
Turnaround information
- 10 working days