Cerebellar degeneration and myositis complex (CDMC)

LABOKLIN Service ID: 8788

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.

Method	sequencing
Breed list	Nova Scotia Duck Tolling Retriever
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab