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Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can't fully break down certain large molecules.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
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.
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.
Additional information
References
Pubmed ID: 38397235
Omia ID: 2591