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Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, sometimes referred to as spinocerebellar ataxia (SCA).
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
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.
Tilleggsinformasjon
Referanser
Pubmed ID: 35864734
Omia ID: 827