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 number8788
AbbreviationCDMC
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneuromuscular
Inheritanceautosomal recessive
Age of onset10 weeks to 6 months
Causalitycausally
GeneSLC25A12
MutationG-A
LiteratureOMIA: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.


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