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H781

Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, a severe neural disorder that causes loss of coordination, muscle weakness and sensory problems.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, a severe neural disorder that causes loss of coordination, muscle weakness and sensory problems. Occurring in the Australian Shepherd, the disorder is caused by a recessive mutation to the gene PNPLA8. The disease is progressive, and may require euthanasia due to increasingly poor quality of life.

Clinical features

Onset of symptoms can be anywhere between 4 and 19 months of age for affected dogs. These symptoms include limb tremors, a stiff gait, ‘bunny-hopping’, hypermetria (overreach of the limbs while stepping) and difficulty navigating stairs or getting up. This can ultimately lead to an inability to walk. Affected dogs may also have an absent menace response. Due to the progressive and severe nature of the disease, euthanasia may be required within the first few years of life.

Additional information

References

Pubmed ID: 35864734

Omia ID: 827

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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