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Hereditary Necrotising Myelopathy (HNM), also known as ENM, is a hereditary neurological disorder that affects the spinal cord.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 14 |
| Mutation | c.439C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | HNM |
Informations générales
Hereditary Necrotising Myelopathy (HNM), also known as ENM, is a hereditary neurological disorder that affects the spinal cord. It leads to degeneration of the white matter, resulting in loss of coordination and mobility. The disorder is caused by a mutation in the IBA57 gene and is inherited in an autosomal recessive manner. HNM has, so far, been observed only in the Kooikerhondje breed.
Caractéristiques cliniques
Symptoms of HNM typically begin between 3 and 12 months of age, starting with hind limb weakness (paresis) and lack of coordination (ataxia). As the disease progresses, it leads to paralysis of all four limbs (tetraparalysis) and often results in the need for euthanasia by the age of two due to the severity of the condition. The disorder is progressive and has no known cure. Carrier dogs (with one copy of the mutation) show no clinical signs.
Additional Information
Références
Pubmed ID: 37588046
Year published: 2023
Omia ID: 706
Omia variant ID: