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H781

Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, sometimes referred to as spinocerebellar ataxia (SCA).

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Specifiche

Breeds

Gene

Organ

specimen

Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto

Mode of Inheritance

Chromosome

Year Published

Informazioni generali

Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, sometimes referred to as spinocerebellar ataxia (SCA). This severe neurological disorder leads to a loss of coordination, muscle weakness, and sensory impairments. It is caused by a recessive mutation in the PNPLA8 gene. As the disease progresses, affected dogs may experience a significantly diminished quality of life, often leading to euthanasia. This variant specifically affects Australian Shepherds.

Caratteristiche cliniche

Onset of symptoms can be anywhere between 4 and 19 months of age for affected dogs. These include limb tremors, a stiff gait, a 'bunny-hopping' gait, hypermetria (overreaching of the limbs while stepping), and difficulty navigating stairs or rising from a resting position. This may eventually result in complete loss of mobility. Affected dogs may also lack a menace response. Due to the disease's progressive and severe nature, affected dogs are often euthanized within the first few years of life.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 35864734

Omia ID: 827

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