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Spinal Dysraphism (SD), also known as Myelodysplasia, is a hereditary neurological disorder present at birth due to an error in the development of an embryo.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.449delinsTT |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | SD; Myelodysplasia |
Informations générales
Spinal Dysraphism (SD), also known as Myelodysplasia, is a hereditary neurological disorder present at birth due to an error in the development of an embryo. The disease is part of a group disorders known as Neural Tube Defects (NTDs). This mutation is found in the Weimaraner breed and caused by a mutation in the NKX2-8 gene.
Caractéristiques cliniques
Affected dogs have a defective spinal canal which are causing neurological abnormalities. Dogs may have abnormal gaits that includes simultaneous movement of the hind legs, referred to as ‘Bunny Hopping’. Other clinical signs are weakness and lack of coordination in the rear, wide-based stance, and abnormal reflexes in the hind limbs.
Additional Information
Références
Pubmed ID: 23874236
Year published: 2013
Omia ID: 938
Omia variant ID: 622