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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.449delinsTT |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SD; Myelodysplasia |
General information
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.
Clinical features
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
References
Pubmed ID: 23874236
Year published: 2013
Omia ID: 938
Omia variant ID: