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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.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 35864734

Omia ID: 827

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