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Dog DNA testing illustration

Inflammatory Myopathy (Myositis)

Code: H867

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Inflammatory Myopathy in the Dutch Shepherd is a severe, progressive neuromuscular disease that results in weakness, muscle atrophy and an inability to walk.

General information

Inflammatory Myopathy in the Dutch Shepherd is a severe, progressive neuromuscular disease that results in weakness, muscle atrophy and an inability to walk. The disorder is caused by a recessive mutation to the gene SLC25A12. A related variant, known as Cerebellar Degeneration-Myositis Complex, is found in the Nova Scotia Duck Tolling Retriever.

Specifications

Breeds

Dutch Shepherd

Gene

SLC25A12

Chromosome

36

Mutation

c.1046T>C

Organ

Nervous System

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Clinical features

Affected dogs present between the ages of 3 and 9 months with progressively developing muscle weakness and atrophy. Signs may include stiffness of the limbs, tremors and an increasing inability to walk. Due to the severe and progressive nature of the disease, euthanasia on humane grounds is likely to be necessary by the age of 2 years.

References

Pubmed ID: 31594244

Year published: 2019

Omia ID: 2294

Omia variant ID:

Turnaround information

  • 15 working days