Canine Multiple System Degeneration (CMSD) – Chinese Crested
Kodas: H165
Short description
Canine Multiple System Degeneration (CMSD) is a progressive neurological disease characterized by degeneration in multiple areas of the central nervous system, particularly the cerebellum, brainstem, and spinal cord.
General information
Canine Multiple System Degeneration (CMSD) is a progressive neurological disease characterized by degeneration in multiple areas of the central nervous system, particularly the cerebellum, brainstem, and spinal cord. It also affect the caudate nucleus and substantia nigra, which are crucial for motor control. CMSD is caused by an autosomal recessive mutation in the Serine Active Site Containing 1 (SERAC1) gene. Mutations in this gene disrupt mitochondrial function and lipid metabolism, leading to neuronal degeneration and dysfunction. The variant tested here is found in Chinese Crested dogs.
Specifications
| Breeds | |
|---|---|
| Gene | SERAC1 |
| Chromosome | 1 |
| Mutation | c.182+1_182+4del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CMSD |
Clinical features
Clinical signs in affected dogs typically begin between 10 to 14 weeks of age, presenting with intention tremors, cerebellar ataxia, hypermetria, and poor balance, which often leads to frequent falls. As the disease progresses rapidly, these dogs develop a hurried, irregular gait, exhibit abnormal posture, and eventually experience akinesia (loss of voluntary movement). Most affected dogs are euthanized by 12 to 24 months of age to prevent suffering.
References
Pubmed ID: 39596578
Year published: 2024
Omia ID: 1468
Omia variant ID:
Turnaround information
- 10 working days