Lysosomal Storage Disease (LSD) – Weimaraner
Code: H340
Short description
Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can't fully break down certain large molecules.
General information
Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can’t fully break down certain large molecules. These molecules build up inside cell structures called lysosomes, causing ongoing damage, especially to the nervous system. In Weimaraner dogs, an autosomal incomplete dominant mutation in the CNP gene is linked to this lysosomal storage disease, resulting in slowly progressing symptoms.
Specifications
| Breeds | |
|---|---|
| Gene | CNP |
| Organ | Skeletal system |
| Specimen | Copan eNAT swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Incomplete Dominant |
| Chromosome | 9 |
| Also known as | LSD |
| Year Published | 2018 |
Clinical features
Clinical signs typically appear around 4 years of age and progress slowly. These clinical signs include loss of coordination in the hind limbs (ataxia), partial paralysis of the hind limbs (paraparesis), incontinence, cognitive decline, decreased interest in food, changes in posture, and episodes of trance-like behavior. As the disease progresses, symptoms worsen, and euthanasia may become necessary due to the severity of the neurological decline.
References
Pubmed ID: 38397235
Omia ID: 2591
Turnaround information
- 15 working days