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Cerebellar Degeneration-Myositis Complex (CDMC) is a severe, degenerative neuromuscular disorder that causes muscle weakness, atrophy and ultimately death.
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Specificaties
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Algemene informatie
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.
Klinische eigenschappen
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.
Extra informatie
Referenties
Pubmed ID: 35886006
Omia ID: 2294