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H377

Spinal Dysraphism (SD), also known as Myelodysplasia, is an inherited neurological disorder present at birth due to an error in the development of an embryo.

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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Spinal Dysraphism (SD), also known as Myelodysplasia, is an inherited 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

Omia ID: 938

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