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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 36 |
| Mutation | c.1337C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CDMC |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 35886006
Year published: 2022
Omia ID: 2294
Omia variant ID: