R381 Demetz Syndrome (AX, Axonopathy)

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Breed:  Blanco Orejinegro, Tyrol Grey
Sample material:  Blood EDTA, Blood Heparin, Hair, Semen, Tissue

10

working days

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Demetz Syndrome is a form of degenerative axonopathy (AX), a severe neurological disease that causes muscle weakness, loss of coordination and ultimately death in affected calves. The disorder is found in the Tyrol Grey and the Blanco Orejinegro breeds, and is caused by a recessive mutation to the gene MFN2.

The symptoms of Demetz Syndrome are similar to Weaver Syndrome in Brown Swiss cattle, but occur earlier in life.

Specifications

Chromosome: 16

Gene: MFN2

Mode of Inheritance: Autosomal Recessive

Organ: Nervous system

Sub-organ: Central nervous system

Species:Cattle

Year published: 2011

Clinical Features

The main symptom of Demetz Syndrome in affected calves is ataxia (loss of coordination), which is the most severe in the hind limbs. This results in a wide-limbed stance and easy loss of balance, and affected calves will ultimately be unable to stand. Symptoms start around the first month of age, and affected animals typically have to be slaughtered or euthanized between 8 and 10 months of age.

References

Omia: 1106

Pubmed: 21526202