Hereditary Ataxia (SCA) – Australian Shepherd
Kodas: H781
Short description
Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, sometimes referred to as spinocerebellar ataxia (SCA).
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | PNPLA8 |
| Chromosome | 18 |
| Mutation | c.1169_1170dup |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
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.
References
Pubmed ID: 35864734
Year published: 2022
Omia ID: 827
Omia variant ID:
Turnaround information
- 10 working days